D8E (p.Asp8Glu) variant of ERCC3 (P19447)
D8E (p.Asp8Glu) 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.
D8E (p.Asp8Glu) variant details
- p.Asp8Glu
- Ensembl rs2104784345
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 12.60
- PolyPhen-2 0.00
- SIFT 0.63
- Population evidence available
- Structural context available