F236L (p.Phe236Leu) variant of SMN1 (Survival motor neuron protein)
F236L (p.Phe236Leu) in SMN1 (Survival motor neuron protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided.
F236L (p.Phe236Leu) variant details
- p.Phe236Leu
- rs2532122055
- ClinGen CA360096379
- ClinVar RCV002475292
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance