D17G (p.Asp17Gly) variant of SMN1 (Survival motor neuron protein)
D17G (p.Asp17Gly) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and published literature.
D17G (p.Asp17Gly) variant details
- p.Asp17Gly
- gnomAD 5-70049735-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.47
- CADD 25.30
- PolyPhen-2 0.04
- SIFT 0.01
- Population evidence available
- Literature evidence available