R1123W (p.Arg1123Trp) variant of SMC1A (Q14683)
R1123W (p.Arg1123Trp) 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 0.87 / 1. The record also includes published literature and structural context.
R1123W (p.Arg1123Trp) variant details
- p.Arg1123Trp
- rs2146582432
- ClinGen CA413243379
- ClinVar RCV001951468
- UniProt VAR 062803
- Pathogenic
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.82
- MetaSVM 0.63
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Pathogenic (in CDLS2)
- UniProt: Pathogenic (in CDLS2)
- Structural context available
- Cited in: SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. (PMID 19701948)
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)