V3F (p.Val3Phe) variant of ERCC5 (P28715)
V3F (p.Val3Phe) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
V3F (p.Val3Phe) variant details
- p.Val3Phe
- ExAC rs781364064
- gnomAD rs781364064
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available