A79D (p.Ala79Asp) variant of ERCC3 (P19447)
A79D (p.Ala79Asp) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
A79D (p.Ala79Asp) variant details
- p.Ala79Asp
- gnomAD rs1391088981
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.51
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.61
- Population evidence available
- Structural context available