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Table 1 The pathogenicity of the TP63 variant

From: Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation

Genomic position(Hg38)

Chr3:189,867,871

cDNA change(NM_003722.5)

c.921G > T

Protein change

p.Met307Ile

Inheritance

Maternal

SIFT

Damaging (0.005)

Polyphen-2_HDIV

Benign (0.357)

Polyphen-2_HVAR

Possibly damaging (0.625)

Mutation Taster

Disease-causing (1.0)

CADD

Damaging (28.2)

GERP +  + 

Conserved (5.61)

REVEL

Damaging (0.827)

PROVEAN

Damaging (-3.57)

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BMC Medical Genomics

ISSN: 1755-8794

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