Y277H (p.Tyr277His) variant of SMN1 (Survival motor neuron protein)
Y277H (p.Tyr277His) in SMN1 (Survival motor neuron protein) is a missense change. The record also includes variant effect predictions and structural context.
Y277H (p.Tyr277His) variant details
- p.Tyr277His
- Ensembl rs1774563020
- Missense
- MetaLR 0.98
- MetaSVM 1.04
- SIFT 0.06
- Structural context available