E83D (p.Glu83Asp) variant of XPC (Q01831)
E83D (p.Glu83Asp) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
E83D (p.Glu83Asp) variant details
- p.Glu83Asp
- ExAC rs758138803
- gnomAD rs758138803
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.04
- CADD 17.00
- PolyPhen-2 0.20
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available