E14A (p.Glu14Ala) variant of SMN1 (Survival motor neuron protein)
E14A (p.Glu14Ala) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
E14A (p.Glu14Ala) variant details
- p.Glu14Ala
- gnomAD 5-70049726-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.35
- CADD 25.60
- PolyPhen-2 0.98
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available