E83K (p.Glu83Lys) variant of XPC (Q01831)
E83K (p.Glu83Lys) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
E83K (p.Glu83Lys) variant details
- p.Glu83Lys
- 1000Genomes rs571061535
- ExAC rs571061535
- gnomAD rs571061535
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.08
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 0.20
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available