E16Q (p.Glu16Gln) variant of SMN1 (Survival motor neuron protein)
E16Q (p.Glu16Gln) in SMN1 (Survival motor neuron protein) is a missense change. The record also includes variant effect predictions.
E16Q (p.Glu16Gln) variant details
- p.Glu16Gln
- Ensembl rs1295551831
- Missense
- MetaLR 0.92
- MetaSVM 0.74
- SIFT 0.07