K324E (p.Lys324Glu) variant of SMC1A (Q14683)
K324E (p.Lys324Glu) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital muscular hypertrophy-cerebral syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
K324E (p.Lys324Glu) variant details
- p.Lys324Glu
- rs2520957778
- ClinGen CA413257657
- ClinVar RCV002303215
- Uncertain significance
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- ESM-1b 1.00
- AlphaMissense 0.56
- ClinVar: Uncertain significance (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)