A315V (p.Ala315Val) variant of SMC1A (Q14683)
A315V (p.Ala315Val) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes structural context.
A315V (p.Ala315Val) variant details
- p.Ala315Val
- gnomAD rs1556890615
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- ESM-1b 1.00
- AlphaMissense 0.76
- Structural context available