R496H (p.Arg496His) variant of SMC1A (Q14683)
R496H (p.Arg496His) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Congenital muscular hypertrophy-cerebral syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
R496H (p.Arg496His) variant details
- p.Arg496His
- rs122454123
- ClinGen CA255969
- cosmic curated COSV59130
- ClinVar RCV000012441
- Uncertain significance
- not provided; Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- ESM-1b 1.00
- AlphaMissense 0.90
- MetaLR 0.83
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Pathogenic (in CDLS2)
- UniProt: Pathogenic (in CDLS2)
- Structural context available
- Cited in: Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant… (PMID 17273969)
- Cited in: Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. (PMID 18996922)