Y585C (p.Tyr585Cys) variant of XPC (Q01831)
Y585C (p.Tyr585Cys) in XPC (Q01831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Xeroderma pigmentosum; Xeroderma pigmentosum, group C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
Y585C (p.Tyr585Cys) variant details
- p.Tyr585Cys
- rs749681216
- ClinGen CA2267372
- ClinVar RCV003332070
- ClinVar RCV003459839
- Likely pathogenic
- Xeroderma pigmentosum; Xeroderma pigmentosum, group C
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.92
- MetaLR 0.72
- MetaSVM 0.67
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Xeroderma pigmentosum; Xeroderma pigmentosum, group C)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)