M278T (p.Met278Thr) variant of SMN1 (Survival motor neuron protein)
M278T (p.Met278Thr) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
M278T (p.Met278Thr) variant details
- p.Met278Thr
- gnomAD 5-70070750-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.67
- CADD 22.80
- PolyPhen-2 0.24
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available