E493A (p.Glu493Ala) variant of SMC1A (Q14683)
E493A (p.Glu493Ala) 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 0.84 / 1. The record also includes published literature and structural context.
E493A (p.Glu493Ala) variant details
- p.Glu493Ala
- rs122454122
- ClinGen CA255965
- ClinVar RCV000012439
- UniProt VAR 026529
- Pathogenic
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.83
- MetaSVM 0.94
- 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: X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. (PMID 16604071)
- Cited in: Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. (PMID 18996922)