Table 2 Functional prediction of the variant by SpliceAI.
From: A novel de novo CLTC variant altering RNA splicing causes fetal developmental abnormalities
HGVS-c | SpliceAI | SpliceAI Pred | SpliceAI Interpretation |
|---|---|---|---|
c.3249 + 1G > C | SpliceAI = C|CLTC|0.00|0.00|0.41|1.00|12|-47|20|-1 | D | 17:57758860 (= 57,758,840 + 20) donor gain0.41; 17:57758839 (= 57758840-1) donor loss 1.0 |