K86M (p.Lys86Met) variant of XPC (Q01831)
K86M (p.Lys86Met) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
K86M (p.Lys86Met) variant details
- p.Lys86Met
- ExAC rs3731063
- TOPMed rs3731063
- gnomAD rs3731063
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.21
- CADD 19.90
- PolyPhen-2 0.64
- SIFT 0.04
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available