K86N (p.Lys86Asn) variant of XPC (Q01831)
K86N (p.Lys86Asn) 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.
K86N (p.Lys86Asn) variant details
- p.Lys86Asn
- gnomAD rs1349999355
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.11
- CADD 13.70
- PolyPhen-2 0.22
- SIFT 0.26
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available