D95H (p.Asp95His) variant of XPC (Q01831)
D95H (p.Asp95His) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
D95H (p.Asp95His) variant details
- p.Asp95His
- ExAC rs772981828
- TOPMed rs772981828
- gnomAD rs772981828
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.17
- CADD 22.70
- PolyPhen-2 0.89
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available