R61L (p.Arg61Leu) variant of ERCC5 (P28715)
R61L (p.Arg61Leu) in ERCC5 (P28715) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R61L (p.Arg61Leu) variant details
- p.Arg61Leu
- gnomAD 13-102852208-ATCG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.683
- CADD 33.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available