K86R (p.Lys86Arg) variant of XPC (Q01831)
K86R (p.Lys86Arg) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
K86R (p.Lys86Arg) variant details
- p.Lys86Arg
- rs3731063
- UniProt VAR 018896
- ExAC rs3731063
- TOPMed rs3731063
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- REVEL 0.07
- CADD 10.30
- PolyPhen-2 0.12
- SIFT 0.19
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- Structural context available
- Literature evidence available