K44R (p.Lys44Arg) variant of XPC (Q01831)
K44R (p.Lys44Arg) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
K44R (p.Lys44Arg) variant details
- p.Lys44Arg
- TOPMed rs1696677092
- gnomAD rs1696677092
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.02
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available