R61G (p.Arg61Gly) variant of ERCC5 (P28715)
R61G (p.Arg61Gly) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
R61G (p.Arg61Gly) variant details
- p.Arg61Gly
- gnomAD rs1439118079
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- CADD 28.80
- PolyPhen-2 0.70
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available