K108E (p.Lys108Glu) variant of XPC (Q01831)
K108E (p.Lys108Glu) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
K108E (p.Lys108Glu) variant details
- p.Lys108Glu
- ESP rs369079467
- ExAC rs369079467
- gnomAD rs369079467
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.28
- CADD 23.20
- PolyPhen-2 0.98
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available