M3T (p.Met3Thr) variant of SMN1 (Survival motor neuron protein)
M3T (p.Met3Thr) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
M3T (p.Met3Thr) variant details
- p.Met3Thr
- gnomAD 5-70049693-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.52
- CADD 19.30
- PolyPhen-2 0.02
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available