P218S (p.Pro218Ser) variant of SMN1 (Survival motor neuron protein)
P218S (p.Pro218Ser) in SMN1 (Survival motor neuron protein) is a missense change. The record also includes variant effect predictions.
P218S (p.Pro218Ser) variant details
- p.Pro218Ser
- gnomAD rs1265341884
- Missense
- MetaLR 0.74
- MetaSVM 0.20
- SIFT 0.20