M3R (p.Met3Arg) variant of SMN1 (Survival motor neuron protein)
M3R (p.Met3Arg) 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, published literature, and structural context.
M3R (p.Met3Arg) variant details
- p.Met3Arg
- gnomAD 5-70049693-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.62
- CADD 22.90
- PolyPhen-2 0.05
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available