A29T (p.Ala29Thr) variant of ERCC3 (P19447)
A29T (p.Ala29Thr) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
A29T (p.Ala29Thr) variant details
- p.Ala29Thr
- Ensembl rs2104783255
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 12.40
- PolyPhen-2 0.01
- SIFT 0.44
- Population evidence available
- Structural context available