E234K (p.Glu234Lys) variant of SMC1A (Q14683)
E234K (p.Glu234Lys) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
E234K (p.Glu234Lys) variant details
- p.Glu234Lys
- Ensembl rs2075719646
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- ESM-1b 1.00
- AlphaMissense 0.68
- Structural context available