H71Y (p.His71Tyr) variant of ERCC3 (P19447)
H71Y (p.His71Tyr) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
H71Y (p.His71Tyr) variant details
- p.His71Tyr
- ESP rs377255867
- ExAC rs377255867
- TOPMed rs377255867
- gnomAD rs377255867
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.32
- ESM-1b 1.00
- AlphaMissense 0.13
- CADD 23.70
- PolyPhen-2 0.04
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available