M3K (p.Met3Lys) variant of SMN1 (Survival motor neuron protein)
M3K (p.Met3Lys) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
M3K (p.Met3Lys) variant details
- p.Met3Lys
- gnomAD 5-70049693-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.58
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available