H71D (p.His71Asp) variant of ERCC3 (P19447)
H71D (p.His71Asp) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
H71D (p.His71Asp) variant details
- p.His71Asp
- ESP rs377255867
- ExAC rs377255867
- TOPMed rs377255867
- gnomAD rs377255867
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.41
- ESM-1b 1.00
- AlphaMissense 0.43
- CADD 24.10
- PolyPhen-2 0.04
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available