E303D (p.Glu303Asp) variant of SMC1A (Q14683)
E303D (p.Glu303Asp) 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 1.00 / 1. The record also includes published literature and structural context.
E303D (p.Glu303Asp) variant details
- p.Glu303Asp
- rs2520958047
- ClinGen CA413257927
- ClinVar RCV003511636
- Pathogenic
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Pathogenic (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)