R112H (p.Arg112His) variant of ERCC2 (P18074)
R112H (p.Arg112His) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Xeroderma pigmentosum, group D; Cerebrooculofacioskeletal syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R112H (p.Arg112His) variant details
- p.Arg112His
- rs121913020
- ClinGen CA126883
- cosmic curated COSV10454
- ClinVar RCV000018273
- Pathogenic
- not provided; Xeroderma pigmentosum, group D; Cerebrooculofacioskeletal syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.89
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Xeroderma pigmentosum, group D; Cerebrooculofacios)
- EBI: Pathogenic (in TTD1 and XP-D)
- UniProt: Pathogenic (in TTD1 and XP-D)
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the… (PMID 11709541)
- Cited in: Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy. (PMID 7920640)