K16E (p.Lys16Glu) variant of SMC1A (Q14683)
K16E (p.Lys16Glu) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar 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 0.97 / 1. The record also includes structural context.
K16E (p.Lys16Glu) variant details
- p.Lys16Glu
- TOPMed rs2075764671
- Uncertain significance
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- ESM-1b 1.00
- AlphaMissense 0.93
- ClinVar: Uncertain significance (Congenital muscular hypertrophy-cerebral syndrome)
- UniProt: Uncertain significance
- Structural context available