E349G (p.Glu349Gly) variant of SMC1A (Q14683)
E349G (p.Glu349Gly) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes structural context.
E349G (p.Glu349Gly) variant details
- p.Glu349Gly
- gnomAD rs1556890594
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- ESM-1b 1.00
- AlphaMissense 0.28
- Structural context available