C781R (p.Cys781Arg) variant of SMC1A (Q14683)
C781R (p.Cys781Arg) 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.
C781R (p.Cys781Arg) variant details
- p.Cys781Arg
- rs2146598316
- ClinGen CA413251070
- ClinVar RCV001788516
- Ensembl rs2146598316
- Pathogenic
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.65
- MetaSVM 0.43
- 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)