R196H (p.Arg196His) variant of SMC1A (Q14683)
R196H (p.Arg196His) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of SMC1A-related disorder; Congenital muscular hypertrophy-cerebral syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
R196H (p.Arg196His) variant details
- p.Arg196His
- rs1556890815
- ClinGen CA413259183
- cosmic curated COSV59130
- ClinVar RCV000639414
- Pathogenic
- SMC1A-related disorder; Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.69
- MetaSVM 0.57
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (SMC1A-related disorder; Congenital muscular hypertrophy-cerebral)
- EBI: Pathogenic (in CDLS2)
- UniProt: Pathogenic (in CDLS2)
- Structural context available
- Cited in: Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations. (PMID 17221863)
- Cited in: Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant… (PMID 17273969)