M3V (p.Met3Val) variant of SMN1 (Survival motor neuron protein)
M3V (p.Met3Val) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
M3V (p.Met3Val) variant details
- p.Met3Val
- gnomAD 5-70049692-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.47
- CADD 19.30
- PolyPhen-2 0.01
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available