A150V (p.Ala150Val) variant of SMC3 (Q9UQE7)
A150V (p.Ala150Val) in SMC3 (Q9UQE7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
A150V (p.Ala150Val) variant details
- p.Ala150Val
- rs2493111025
- ClinGen CA378375177
- ClinVar RCV003109958
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.953
- ESM-1b 1.00
- AlphaMissense 0.90
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available