Gene | Accession number | Chromosome position | Exon | Variant Type | Variant | Mutation Tastera | PROVEANb (cutoff = − 2.5) | SIFTb (cutoff = 0.05) | CADD_Phrec (cutoff = 20) |
---|---|---|---|---|---|---|---|---|---|
TUB | NM_003320.5 | 11p15.4 | 11 | Missense Variant | c.1379A > G p.Asn460Ser | ~ 1 | − 4.19 | 0.035 | 24 |
 |  |  |  |  |  | Disease-causing | Deleterious | Damaging | Damaging |