V17F (p.Val17Phe) variant of ERCC5 (P28715)
V17F (p.Val17Phe) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
V17F (p.Val17Phe) variant details
- p.Val17Phe
- gnomAD 13-102846315-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- CADD 27.20
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available