N215K (p.Asn215Lys) variant of SMN1 (Survival motor neuron protein)
N215K (p.Asn215Lys) in SMN1 (Survival motor neuron protein) is a missense change. The record also includes variant effect predictions.
N215K (p.Asn215Lys) variant details
- p.Asn215Lys
- Ensembl rs1749518339
- Missense
- MetaLR 0.40
- MetaSVM -0.67
- SIFT 0.69