R666W (p.Arg666Trp) variant of ERCC2 (P18074)
R666W (p.Arg666Trp) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Cerebrooculofacioskeletal syndrome 2; Trichothiodystrophy 1, photo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R666W (p.Arg666Trp) variant details
- p.Arg666Trp
- rs752510317
- ClinGen CA9512943
- cosmic curated COSV10654
- ClinVar RCV001947789
- Pathogenic/Likely pathogenic
- not provided; Cerebrooculofacioskeletal syndrome 2; Trichothiodystrophy 1, photo
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.83
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Cerebrooculofacioskeletal syndrome 2; Trichothiody)
- EBI: Pathogenic (in XP-D)
- UniProt: Pathogenic (in XP-D)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases. (PMID 11156600)
- Cited in: A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. (PMID 10447254)