C126W (p.Cys126Trp) variant of XPA (P23025)
C126W (p.Cys126Trp) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
C126W (p.Cys126Trp) variant details
- p.Cys126Trp
- rs1451780491
- ClinGen CA374187695
- ClinVar RCV000668799
- ClinVar RCV002256462
- Likely pathogenic
- Xeroderma pigmentosum group A; Xeroderma pigmentosum
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.96
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Xeroderma pigmentosum group A; Xeroderma pigmentosum)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)