L58W (p.Leu58Trp) variant of ERCC5 (P28715)
L58W (p.Leu58Trp) 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.
L58W (p.Leu58Trp) variant details
- p.Leu58Trp
- gnomAD 13-102852202-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available