F280S (p.Phe280Ser) variant of SMN1 (Survival motor neuron protein)
F280S (p.Phe280Ser) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
F280S (p.Phe280Ser) variant details
- p.Phe280Ser
- gnomAD 5-70071289-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- CADD 4.48
- Population evidence available
- Structural context available
- Literature evidence available