R658G (p.Arg658Gly) variant of ERCC2 (P18074)
R658G (p.Arg658Gly) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Trichothiodystrophy 1, photosensitive; Xeroderma pigmentosum, group D. 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.
R658G (p.Arg658Gly) variant details
- p.Arg658Gly
- rs121913021
- ClinGen CA406363209
- ClinVar RCV001799560
- ExAC rs121913021
- Likely pathogenic
- Trichothiodystrophy 1, photosensitive; Xeroderma pigmentosum, group D
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.91
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Trichothiodystrophy 1, photosensitive; Xeroderma pigmentosum, gr)
- EBI: Pathogenic (in TTD1)
- UniProt: Pathogenic (in TTD1)
- Population evidence available
- Structural context available
- Cited in: The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases. (PMID 11156600)
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)