A150S (p.Ala150Ser) variant of SMC3 (Q9UQE7)
A150S (p.Ala150Ser) in SMC3 (Q9UQE7) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes structural context.
A150S (p.Ala150Ser) variant details
- p.Ala150Ser
- ExAC rs747493783
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- ESM-1b 1.00
- AlphaMissense 0.18
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available