I249V (p.Ile249Val) variant of SMN1 (Survival motor neuron protein)
I249V (p.Ile249Val) in SMN1 (Survival motor neuron protein) is a missense change. The record also includes variant effect predictions and structural context.
I249V (p.Ile249Val) variant details
- p.Ile249Val
- Ensembl rs1749549104
- Missense
- MetaLR 0.87
- MetaSVM 0.50
- SIFT 0.45
- Structural context available