A257D (p.Ala257Asp) variant of SMN1 (Survival motor neuron protein)
A257D (p.Ala257Asp) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A257D (p.Ala257Asp) variant details
- p.Ala257Asp
- gnomAD 5-70070687-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.38
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available