C108Y (p.Cys108Tyr) variant of XPA (P23025)
C108Y (p.Cys108Tyr) in XPA (P23025) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Xeroderma pigmentosum; Xeroderma pigmentosum group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
C108Y (p.Cys108Tyr) variant details
- p.Cys108Tyr
- rs104894131
- ClinGen CA374187825
- ClinVar RCV000492893
- ClinVar RCV000672811
- Conflicting interpretations
- not provided; Xeroderma pigmentosum; Xeroderma pigmentosum group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.93
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Xeroderma pigmentosum; Xeroderma pigmentosum group)
- EBI: Likely pathogenic (in XP-A)
- UniProt: Likely pathogenic (in XP-A)
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)