E83G (p.Glu83Gly) variant of XPC (Q01831)
E83G (p.Glu83Gly) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
E83G (p.Glu83Gly) variant details
- p.Glu83Gly
- Ensembl rs1696670173
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.04
- CADD 15.60
- PolyPhen-2 0.27
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available