V46A (p.Val46Ala) variant of ERCC3 (P19447)
V46A (p.Val46Ala) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
V46A (p.Val46Ala) variant details
- p.Val46Ala
- TOPMed rs1054769172
- gnomAD rs1054769172
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available