P226L (p.Pro226Leu) variant of SMN1 (Survival motor neuron protein)
P226L (p.Pro226Leu) in SMN1 (Survival motor neuron protein) is a missense change.
P226L (p.Pro226Leu) variant details
- p.Pro226Leu
- Ensembl rs1749519818
- Missense
P226L (p.Pro226Leu) in SMN1 (Survival motor neuron protein) is a missense change.