D258A (p.Asp258Ala) variant of SMN1 (Survival motor neuron protein)
D258A (p.Asp258Ala) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
D258A (p.Asp258Ala) variant details
- p.Asp258Ala
- gnomAD 5-70070690-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.81
- CADD 25.20
- Population evidence available
- Structural context available
- Literature evidence available