R30Q (p.Arg30Gln) variant of XPA (P23025)
R30Q (p.Arg30Gln) in XPA (P23025) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Xeroderma pigmentosum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R30Q (p.Arg30Gln) variant details
- p.Arg30Gln
- rs760613920
- ClinGen CA5148918
- ClinVar RCV002257195
- ExAC rs760613920
- Uncertain significance
- Xeroderma pigmentosum
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.26
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Xeroderma pigmentosum)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)