R130K (p.Arg130Lys) variant of XPA (P23025)
R130K (p.Arg130Lys) in XPA (P23025) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Xeroderma pigmentosum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R130K (p.Arg130Lys) variant details
- p.Arg130Lys
- rs1324310300
- ClinGen CA374187668
- ClinVar RCV000666137
- ClinVar RCV003403540
- Likely pathogenic
- Xeroderma pigmentosum
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.71
- CADD 34.00
- PolyPhen-2 0.67
- SIFT 0.11
- ClinVar: Likely pathogenic (Xeroderma pigmentosum)
- EBI: Pathogenic (in XP-A)
- UniProt: Pathogenic (in XP-A)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: The Japan Society of Human Genetics Award Lecture. Molecular analysis of xeroderma pigmentosum group A gene. (PMID 8504220)
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)