I70V (p.Ile70Val) variant of ERCC5 (P28715)
I70V (p.Ile70Val) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
I70V (p.Ile70Val) variant details
- p.Ile70Val
- gnomAD 13-102852237-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- CADD 23.80
- PolyPhen-2 0.26
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available