A2A (p.Ala2Ala) variant of SMN1 (Survival motor neuron protein)
A2A (p.Ala2Ala) in SMN1 (Survival motor neuron protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- gnomAD 5-70049691-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.578
- CADD 13.90
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available