L124S (p.Leu124Ser) variant of SMC1A (Q14683)
L124S (p.Leu124Ser) 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 0.54 / 1. The record also includes population frequency data and structural context.
L124S (p.Leu124Ser) variant details
- p.Leu124Ser
- gnomAD rs1556891045
- Uncertain significance
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.52
- ESM-1b 1.00
- AlphaMissense 0.85
- MetaLR 0.23
- MetaSVM -0.82
- CADD 25.60
- ClinVar: Uncertain significance (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 8.3e-06)
- Structural context available