P241L (p.Pro241Leu) variant of SMN1 (Survival motor neuron protein)
P241L (p.Pro241Leu) in SMN1 (Survival motor neuron protein) is a missense change. The record also includes variant effect predictions and structural context.
P241L (p.Pro241Leu) variant details
- p.Pro241Leu
- Ensembl rs2112811917
- Missense
- MetaLR 0.79
- MetaSVM 0.67
- SIFT 0.61
- Structural context available