G279E (p.Gly279Glu) variant of SMN1 (Survival motor neuron protein)
G279E (p.Gly279Glu) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G279E (p.Gly279Glu) variant details
- p.Gly279Glu
- rs1350663373
- gnomAD 5-70071286-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- CADD 2.63
- Population evidence available
- Structural context available
- Literature evidence available