F133V (p.Phe133Val) variant of SMC1A (Q14683)
F133V (p.Phe133Val) 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 0.88 / 1. The record also includes published literature and structural context.
F133V (p.Phe133Val) variant details
- p.Phe133Val
- rs2075725792
- ClinGen CA413131409
- ClinVar RCV001048385
- UniProt VAR 062786
- Pathogenic
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.88
- MetaSVM 1.15
- PolyPhen-2 1.00
- SIFT 0.05
- ClinVar: Pathogenic (Congenital muscular hypertrophy-cerebral syndrome)
- 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: SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. (PMID 19701948)