F21S (p.Phe21Ser) variant of SMN1 (Survival motor neuron protein)
F21S (p.Phe21Ser) in SMN1 (Survival motor neuron protein) is a missense change. The record also includes variant effect predictions and structural context.
F21S (p.Phe21Ser) variant details
- p.Phe21Ser
- Ensembl rs74900327
- cosmic curated COSV63621
- Missense
- MetaLR 0.96
- MetaSVM 1.09
- SIFT 0.04
- Structural context available