G362S (p.Gly362Ser) variant of SMC1A (Q14683)
G362S (p.Gly362Ser) in SMC1A (Q14683) 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 0.97 / 1. The record also includes structural context.
G362S (p.Gly362Ser) variant details
- p.Gly362Ser
- rs2520957067
- ClinGen CA413257112
- ClinVar RCV003129454
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.972
- ESM-1b 1.00
- AlphaMissense 0.94
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available