A42V (p.Ala42Val) variant of ERCC3 (P19447)
A42V (p.Ala42Val) in ERCC3 (P19447) 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.
A42V (p.Ala42Val) variant details
- p.Ala42Val
- ExAC rs759837409
- TOPMed rs759837409
- gnomAD rs759837409
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.70
- CADD 25.00
- PolyPhen-2 0.48
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available