D35N (p.Asp35Asn) variant of XPC (Q01831)
D35N (p.Asp35Asn) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
D35N (p.Asp35Asn) variant details
- p.Asp35Asn
- ExAC rs775816530
- TOPMed rs775816530
- gnomAD rs775816530
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.07
- CADD 32.00
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.4e-05)
- Structural context available