K86E (p.Lys86Glu) variant of XPC (Q01831)
K86E (p.Lys86Glu) 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.
K86E (p.Lys86Glu) variant details
- p.Lys86Glu
- ExAC rs778347566
- gnomAD rs778347566
- Missense
- Variant Prioritization Score for Impact Estimate 0.0812
- REVEL 0.09
- CADD 2.07
- PolyPhen-2 0.08
- SIFT 0.31
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available