A259D (p.Ala259Asp) variant of SMN1 (Survival motor neuron protein)
A259D (p.Ala259Asp) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and published literature.
A259D (p.Ala259Asp) variant details
- p.Ala259Asp
- gnomAD 5-70071175-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- CADD 4.14
- Population evidence available
- Literature evidence available