P226T (p.Pro226Thr) variant of SMN1 (Survival motor neuron protein)
P226T (p.Pro226Thr) in SMN1 (Survival motor neuron protein) is a missense change. The record also includes variant effect predictions.
P226T (p.Pro226Thr) variant details
- p.Pro226Thr
- Ensembl rs1749519656
- Missense
- MetaLR 0.76
- MetaSVM 0.60
- SIFT 0.05