A259A (p.Ala259Ala) variant of SMN1 (Survival motor neuron protein)
A259A (p.Ala259Ala) in SMN1 (Survival motor neuron protein) is a synonymous 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.
A259A (p.Ala259Ala) variant details
- p.Ala259Ala
- gnomAD 5-70071176-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.28
- CADD 8.33
- Population evidence available
- Literature evidence available