R56K (p.Arg56Lys) variant of XPC (Q01831)
R56K (p.Arg56Lys) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
R56K (p.Arg56Lys) variant details
- p.Arg56Lys
- TOPMed rs1410611847
- gnomAD rs1410611847
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.10
- CADD 13.30
- PolyPhen-2 0.01
- SIFT 0.35
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available