D90N (p.Asp90Asn) variant of XPC (Q01831)
D90N (p.Asp90Asn) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
D90N (p.Asp90Asn) variant details
- p.Asp90Asn
- ExAC rs759616600
- gnomAD rs759616600
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.25
- CADD 23.20
- PolyPhen-2 0.49
- SIFT 0.23
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available