R196G (p.Arg196Gly) variant of SMC1A (Q14683)
R196G (p.Arg196Gly) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital muscular hypertrophy-cerebral syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
R196G (p.Arg196Gly) variant details
- p.Arg196Gly
- rs587784422
- ClinGen CA413259184
- ClinVar RCV001389992
- Ensembl rs587784422
- Pathogenic
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.67
- MetaSVM 0.47
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Pathogenic (in CDLS2)
- UniProt: Pathogenic (in CDLS2)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)