L56R (p.Leu56Arg) variant of ERCC5 (P28715)
L56R (p.Leu56Arg) 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 and structural context.
L56R (p.Leu56Arg) variant details
- p.Leu56Arg
- 1000Genomes rs570321828
- ExAC rs570321828
- gnomAD rs570321828
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- CADD 28.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available