D95N (p.Asp95Asn) variant of XPC (Q01831)
D95N (p.Asp95Asn) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
D95N (p.Asp95Asn) variant details
- p.Asp95Asn
- ExAC rs772981828
- TOPMed rs772981828
- gnomAD rs772981828
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.20
- CADD 23.50
- PolyPhen-2 0.51
- SIFT 0.05
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available