R496C (p.Arg496Cys) variant of SMC1A (Q14683)
R496C (p.Arg496Cys) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic e. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
R496C (p.Arg496Cys) variant details
- p.Arg496Cys
- rs2075701790
- ClinGen CA413255464
- NCI-TCGA Cosmic COSV5912
- cosmic curated COSV59128
- Pathogenic/Likely pathogenic
- Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic e
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.85
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Congenital muscular hypertrophy-cerebral syndrome; Developmental)
- 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)