C259Y (p.Cys259Tyr) variant of ERCC2 (P18074)
C259Y (p.Cys259Tyr) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cerebrooculofacioskeletal syndrome 2; Xeroderma pigmentosum, group D; Trichothio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
C259Y (p.Cys259Tyr) variant details
- p.Cys259Tyr
- rs370454709
- ClinGen CA9513634
- ClinVar RCV000435999
- ClinVar RCV002256206
- Pathogenic/Likely pathogenic
- Cerebrooculofacioskeletal syndrome 2; Xeroderma pigmentosum, group D; Trichothio
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.83
- CADD 26.00
- PolyPhen-2 0.61
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cerebrooculofacioskeletal syndrome 2; Xeroderma pigmentosum, gro)
- EBI: Pathogenic (in TTD1)
- UniProt: Pathogenic (in TTD1)
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- Structural context available
- Cited in: Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with… (PMID 9758621)
- Cited in: The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases. (PMID 11156600)