D90E (p.Asp90Glu) variant of XPC (Q01831)
D90E (p.Asp90Glu) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
D90E (p.Asp90Glu) variant details
- p.Asp90Glu
- ExAC rs751610089
- Missense
- Variant Prioritization Score for Impact Estimate 0.0793
- REVEL 0.09
- CADD 1.36
- PolyPhen-2 0.01
- SIFT 0.39
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available