G14R (p.Gly14Arg) variant of ERCC5 (P28715)
G14R (p.Gly14Arg) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
G14R (p.Gly14Arg) variant details
- p.Gly14Arg
- ExAC rs771547408
- gnomAD rs771547408
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available