P13L (p.Pro13Leu) variant of SMN1 (Survival motor neuron protein)
P13L (p.Pro13Leu) in SMN1 (Survival motor neuron protein) is a missense change. The record also includes variant effect predictions and structural context.
P13L (p.Pro13Leu) variant details
- p.Pro13Leu
- Ensembl rs1774434758
- Missense
- MetaLR 0.90
- MetaSVM 0.64
- SIFT 0.10
- Structural context available