D17E (p.Asp17Glu) variant of SMN1 (Survival motor neuron protein)
D17E (p.Asp17Glu) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and published literature.
D17E (p.Asp17Glu) variant details
- p.Asp17Glu
- gnomAD 5-70049736-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.27
- CADD 7.66
- PolyPhen-2 0.04
- SIFT 0.29
- Population evidence available
- Literature evidence available