C108F (p.Cys108Phe) variant of XPA (P23025)
C108F (p.Cys108Phe) in XPA (P23025) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Xeroderma pigmentosum group A; Xeroderma pigmentosum. 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.
C108F (p.Cys108Phe) variant details
- p.Cys108Phe
- rs104894131
- ClinGen CA251648
- ClinVar RCV000001048
- ClinVar RCV005055500
- Likely pathogenic
- Xeroderma pigmentosum group A; Xeroderma pigmentosum
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.92
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Xeroderma pigmentosum group A; Xeroderma pigmentosum)
- EBI: Pathogenic (in XP-A)
- UniProt: Pathogenic (in XP-A)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Molecular basis of group A xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger… (PMID 1339397)
- Cited in: Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional… (PMID 9671271)