E248Q (p.Glu248Gln) variant of SMC1A (Q14683)
E248Q (p.Glu248Gln) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes structural context.
E248Q (p.Glu248Gln) variant details
- p.Glu248Gln
- gnomAD rs1556890765
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- ESM-1b 1.00
- AlphaMissense 0.19
- Structural context available