V33I (p.Val33Ile) variant of ERCC4 (DNA repair endonuclease XPF)
V33I (p.Val33Ile) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
V33I (p.Val33Ile) variant details
- p.Val33Ile
- gnomAD 16-13920262-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.10
- CADD 23.00
- PolyPhen-2 0.35
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available