L39R (p.Leu39Arg) variant of ERCC5 (P28715)
L39R (p.Leu39Arg) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
L39R (p.Leu39Arg) variant details
- p.Leu39Arg
- gnomAD 13-102852145-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- CADD 28.10
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available