L62F (p.Leu62Phe) variant of ERCC5 (P28715)
L62F (p.Leu62Phe) 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.
L62F (p.Leu62Phe) variant details
- p.Leu62Phe
- gnomAD 13-102852213-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- CADD 25.60
- PolyPhen-2 0.80
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available