G54R (p.Gly54Arg) variant of XPC (Q01831)
G54R (p.Gly54Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
G54R (p.Gly54Arg) variant details
- p.Gly54Arg
- rs1696674854
- ClinGen CA351543288
- ClinVar RCV002258650
- TOPMed rs1696674854
- Uncertain significance
- Xeroderma pigmentosum
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.07
- CADD 7.22
- ClinVar: Uncertain significance (Xeroderma pigmentosum)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)