D68V (p.Asp68Val) variant of XPC (Q01831)
D68V (p.Asp68Val) in XPC (Q01831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Xeroderma pigmentosum, group C; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
D68V (p.Asp68Val) variant details
- p.Asp68Val
- rs56012223
- ClinGen CA2267778
- ClinVar RCV000940509
- ClinVar RCV001292834
- Conflicting interpretations
- Xeroderma pigmentosum, group C; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0851
- REVEL 0.06
- CADD 9.54
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Xeroderma pigmentosum, group C; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)