E33K (p.Glu33Lys) variant of XPC (Q01831)
E33K (p.Glu33Lys) 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.
E33K (p.Glu33Lys) variant details
- p.Glu33Lys
- gnomAD rs1236624814
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.10
- CADD 22.30
- PolyPhen-2 0.06
- SIFT 0.17
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available