K247E (p.Lys247Glu) variant of SMC1A (Q14683)
K247E (p.Lys247Glu) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
K247E (p.Lys247Glu) variant details
- p.Lys247Glu
- rs2075719463
- ClinGen CA413258606
- ClinVar RCV003625729
- Ensembl rs2075719463
- Uncertain significance
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.23
- ESM-1b 1.00
- AlphaMissense 0.20
- MetaLR 0.17
- MetaSVM -0.92
- CADD 19.00
- ClinVar: Uncertain significance (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)