A259V (p.Ala259Val) variant of SMN1 (Survival motor neuron protein)
A259V (p.Ala259Val) in SMN1 (Survival motor neuron protein) is a protein-truncating 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.
A259V (p.Ala259Val) variant details
- p.Ala259Val
- rs1774582663
- gnomAD 5-70071174-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.285
- CADD 5.25
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Literature evidence available