G13R (p.Gly13Arg) variant of XPC (Q01831)
G13R (p.Gly13Arg) 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; not provided; Xeroderma pigmentosum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
G13R (p.Gly13Arg) variant details
- p.Gly13Arg
- rs201273381
- 1000Genomes rs201273381
- ESP rs201273381
- ExAC rs201273381
- Uncertain significance
- Xeroderma pigmentosum, group C; not provided; Xeroderma pigmentosum
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.05
- CADD 11.40
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Uncertain significance (Xeroderma pigmentosum, group C; not provided; Xeroderma pigmento)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)