D97N (p.Asp97Asn) variant of XPC (Q01831)
D97N (p.Asp97Asn) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
D97N (p.Asp97Asn) variant details
- p.Asp97Asn
- TOPMed rs1696666880
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.02
- CADD 17.70
- PolyPhen-2 0.16
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available