E14D (p.Glu14Asp) variant of SMN1 (Survival motor neuron protein)
E14D (p.Glu14Asp) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E14D (p.Glu14Asp) variant details
- p.Glu14Asp
- gnomAD 5-70049727-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.37
- CADD 24.80
- PolyPhen-2 0.97
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available