V5L (p.Val5Leu) variant of ERCC2 (P18074)
V5L (p.Val5Leu) in ERCC2 (P18074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
V5L (p.Val5Leu) variant details
- p.Val5Leu
- ExAC rs745363914
- gnomAD rs745363914
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.20
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available