R71L (p.Arg71Leu) variant of ERCC5 (P28715)
R71L (p.Arg71Leu) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R71L (p.Arg71Leu) variant details
- p.Arg71Leu
- gnomAD 13-102852241-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- CADD 32.00
- 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