G14A (p.Gly14Ala) variant of ERCC5 (P28715)
G14A (p.Gly14Ala) in ERCC5 (P28715) is a missense 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.
G14A (p.Gly14Ala) variant details
- p.Gly14Ala
- gnomAD 13-102846307-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- CADD 26.50
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available