L56V (p.Leu56Val) variant of ERCC5 (P28715)
L56V (p.Leu56Val) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
L56V (p.Leu56Val) variant details
- p.Leu56Val
- gnomAD 13-102852195-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- CADD 25.10
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available