M278V (p.Met278Val) variant of SMN1 (Survival motor neuron protein)
M278V (p.Met278Val) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
M278V (p.Met278Val) variant details
- p.Met278Val
- gnomAD 5-70077022-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- CADD 7.74
- Population evidence available
- Structural context available
- Literature evidence available