E313K (p.Glu313Lys) variant of SMC1A (Q14683)
E313K (p.Glu313Lys) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Congenital muscular hypertrophy-cerebral syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
E313K (p.Glu313Lys) variant details
- p.Glu313Lys
- rs2520957938
- ClinGen CA413257801
- ClinVar RCV003022887
- ClinVar RCV005241514
- Conflicting interpretations
- Congenital muscular hypertrophy-cerebral syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.926
- ESM-1b 1.00
- AlphaMissense 0.84
- ClinVar: Conflicting classifications of pathogenicity (Congenital muscular hypertrophy-cerebral syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)