A6G (p.Ala6Gly) variant of XPC (Q01831)
A6G (p.Ala6Gly) in XPC (Q01831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Xeroderma pigmentosum, group C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A6G (p.Ala6Gly) variant details
- p.Ala6Gly
- rs770358796
- ClinGen CA2267841
- ClinVar RCV001150854
- ClinVar RCV003363121
- Uncertain significance
- Inborn genetic diseases; Xeroderma pigmentosum, group C
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.10
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (Inborn genetic diseases; Xeroderma pigmentosum, group C)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)