E368K (p.Glu368Lys) variant of SMC1A (Q14683)
E368K (p.Glu368Lys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
E368K (p.Glu368Lys) variant details
- p.Glu368Lys
- rs2146604722
- ClinGen CA413257031
- ClinVar RCV002226866
- Ensembl rs2146604722
- Likely pathogenic
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- ESM-1b 1.00
- AlphaMissense 0.82
- MetaLR 0.61
- MetaSVM 0.35
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Likely pathogenic (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)