E38K (p.Glu38Lys) variant of XPC (Q01831)
E38K (p.Glu38Lys) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
E38K (p.Glu38Lys) variant details
- p.Glu38Lys
- ExAC rs780824037
- gnomAD rs780824037
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.07
- CADD 23.00
- PolyPhen-2 0.19
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available