I50V (p.Ile50Val) variant of ERCC5 (P28715)
I50V (p.Ile50Val) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
I50V (p.Ile50Val) variant details
- p.Ile50Val
- ExAC rs781276062
- TOPMed rs781276062
- gnomAD rs781276062
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- CADD 7.05
- PolyPhen-2 0.03
- SIFT 0.60
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available