M278L (p.Met278Leu) variant of SMN1 (Survival motor neuron protein)
M278L (p.Met278Leu) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
M278L (p.Met278Leu) variant details
- p.Met278Leu
- rs1261603789
- gnomAD 5-70077022-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- CADD 7.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available