G10D (p.Gly10Asp) variant of SMN1 (Survival motor neuron protein)
G10D (p.Gly10Asp) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G10D (p.Gly10Asp) variant details
- p.Gly10Asp
- gnomAD 5-70049714-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.35
- CADD 14.60
- PolyPhen-2 0.01
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available