A29V (p.Ala29Val) variant of ERCC3 (P19447)
A29V (p.Ala29Val) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
A29V (p.Ala29Val) variant details
- p.Ala29Val
- 1000Genomes rs562762727
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available