A58V (p.Ala58Val) variant of ERCC3 (P19447)
A58V (p.Ala58Val) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A58V (p.Ala58Val) variant details
- p.Ala58Val
- 1000Genomes rs577213973
- ExAC rs577213973
- gnomAD rs577213973
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.80
- CADD 24.10
- PolyPhen-2 0.23
- SIFT 0.10
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available