E10K (p.Glu10Lys) variant of XPC (Q01831)
E10K (p.Glu10Lys) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
E10K (p.Glu10Lys) variant details
- p.Glu10Lys
- ExAC rs747294422
- TOPMed rs747294422
- gnomAD rs747294422
- Missense
- Variant Prioritization Score for Impact Estimate 0.077
- REVEL 0.07
- CADD 2.55
- PolyPhen-2 0.00
- SIFT 0.54
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available