C663R (p.Cys663Arg) variant of ERCC2 (P18074)
C663R (p.Cys663Arg) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
C663R (p.Cys663Arg) variant details
- p.Cys663Arg
- rs770367713
- UniProt VAR 017291
- ExAC rs770367713
- TOPMed rs770367713
- Likely pathogenic
- Cerebrooculofacioskeletal syndrome 2; Xeroderma pigmentosum, group D; Trichothio
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.92
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.07
- CADD 25.20
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Cerebrooculofacioskeletal syndrome 2; Xeroderma pigmentosum, gro)
- EBI: Pathogenic (in TTD1)
- UniProt: Pathogenic (in TTD1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases. (PMID 11156600)
- Cited in: A temperature-sensitive disorder in basal transcription and DNA repair in humans. (PMID 11242112)