A259S (p.Ala259Ser) variant of SMN1 (Survival motor neuron protein)
A259S (p.Ala259Ser) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and published literature.
A259S (p.Ala259Ser) variant details
- p.Ala259Ser
- gnomAD 5-70071174-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- CADD 5.76
- Population evidence available
- Literature evidence available