R658C (p.Arg658Cys) variant of ERCC2 (P18074)
R658C (p.Arg658Cys) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Trichothiodystrophy 1, photosensitive; Cerebrooculofacioskeletal syndrome 2; Xer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R658C (p.Arg658Cys) variant details
- p.Arg658Cys
- rs121913021
- ClinGen CA126885
- cosmic curated COSV67270
- ClinVar RCV000018275
- Pathogenic/Likely pathogenic
- Trichothiodystrophy 1, photosensitive; Cerebrooculofacioskeletal syndrome 2; Xer
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.90
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Trichothiodystrophy 1, photosensitive; Cerebrooculofacioskeletal)
- EBI: Pathogenic (in TTD1)
- UniProt: Pathogenic (in TTD1)
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available
- Cited in: A temperature-sensitive disorder in basal transcription and DNA repair in humans. (PMID 11242112)
- Cited in: Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy. (PMID 8571952)