V3I (p.Val3Ile) variant of ERCC5 (P28715)
V3I (p.Val3Ile) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
V3I (p.Val3Ile) variant details
- p.Val3Ile
- ExAC rs781364064
- gnomAD rs781364064
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available