R112C (p.Arg112Cys) variant of ERCC2 (P18074)
R112C (p.Arg112Cys) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Trichothiodystrophy 1, photosensitive; Cerebrooculofacioskeletal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R112C (p.Arg112Cys) variant details
- p.Arg112Cys
- rs760820378
- ClinGen CA9513829
- cosmic curated COSV55539
- ClinVar RCV001329857
- Conflicting interpretations
- not specified; Trichothiodystrophy 1, photosensitive; Cerebrooculofacioskeletal
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.88
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Trichothiodystrophy 1, photosensitive; Cerebroocu)
- EBI: Likely pathogenic (in TTD1 and XP-D)
- UniProt: Likely pathogenic (in TTD1 and XP-D)
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)