L4V (p.Leu4Val) variant of SMC1A (Q14683)
L4V (p.Leu4Val) 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.
L4V (p.Leu4Val) variant details
- p.Leu4Val
- Ensembl rs2075764867
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- ESM-1b 1.00
- AlphaMissense 0.77
- Structural context available