H92Y (p.His92Tyr) variant of XPA (P23025)
H92Y (p.His92Tyr) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
H92Y (p.His92Tyr) variant details
- p.His92Tyr
- ExAC rs752620949
- gnomAD rs752620949
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.17
- CADD 25.50
- PolyPhen-2 0.47
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available