K108N (p.Lys108Asn) variant of XPC (Q01831)
K108N (p.Lys108Asn) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
K108N (p.Lys108Asn) variant details
- p.Lys108Asn
- TOPMed rs535425175
- gnomAD rs535425175
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.19
- CADD 23.40
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available