K45R (p.Lys45Arg) variant of XPC (Q01831)
K45R (p.Lys45Arg) in XPC (Q01831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Xeroderma pigmentosum, group C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
K45R (p.Lys45Arg) variant details
- p.Lys45Arg
- rs779117189
- ClinGen CA2267790
- ClinVar RCV000393494
- ExAC rs779117189
- Uncertain significance
- Xeroderma pigmentosum, group C
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.03
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (Xeroderma pigmentosum, group C)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00083)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)