G2V (p.Gly2Val) variant of ERCC5 (P28715)
G2V (p.Gly2Val) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data.
G2V (p.Gly2Val) variant details
- p.Gly2Val
- TOPMed rs1242514429
- gnomAD rs1242514429
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- CADD 29.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)