M3L (p.Met3Leu) variant of SMN1 (Survival motor neuron protein)
M3L (p.Met3Leu) 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.
M3L (p.Met3Leu) variant details
- p.Met3Leu
- gnomAD 5-70049692-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.46
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available