G9V (p.Gly9Val) variant of XPC (Q01831)
G9V (p.Gly9Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
G9V (p.Gly9Val) variant details
- p.Gly9Val
- rs376802950
- ClinGen CA2267839
- ClinVar RCV001508140
- ClinVar RCV001788489
- Uncertain significance
- Xeroderma pigmentosum, group C; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.07
- CADD 8.48
- PolyPhen-2 0.06
- SIFT 0.20
- ClinVar: Uncertain significance (Xeroderma pigmentosum, group C; not provided)
- 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)