E1040K (p.Glu1040Lys) variant of SMC1A (Q14683)
E1040K (p.Glu1040Lys) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic e. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
E1040K (p.Glu1040Lys) variant details
- p.Glu1040Lys
- rs2520828084
- ClinGen CA413245224
- ClinVar RCV003883330
- Likely pathogenic
- Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic e
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- ESM-1b 1.00
- AlphaMissense 0.84
- ClinVar: Likely pathogenic (Congenital muscular hypertrophy-cerebral syndrome; Developmental)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)