G5R (p.Gly5Arg) variant of ERCC5 (P28715)
G5R (p.Gly5Arg) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
G5R (p.Gly5Arg) variant details
- p.Gly5Arg
- ExAC rs756544378
- TOPMed rs756544378
- gnomAD rs756544378
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available