R196C (p.Arg196Cys) variant of SMC1A (Q14683)
R196C (p.Arg196Cys) in SMC1A (Q14683) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CDLS2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
R196C (p.Arg196Cys) variant details
- p.Arg196Cys
- rs587784422
- ClinGen CA272592
- NCI-TCGA Cosmic COSV5913
- cosmic curated COSV59132
- Pathogenic
- in CDLS2
- 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
- EBI: Pathogenic (in CDLS2)
- UniProt: Pathogenic (in CDLS2)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)