M3E (p.Met3Glu) variant of SMN1 (Survival motor neuron protein)
M3E (p.Met3Glu) in SMN1 (Survival motor neuron protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
M3E (p.Met3Glu) variant details
- p.Met3Glu
- gnomAD 5-70049691-GAT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.67
- CADD 24.90
- Population evidence available
- Structural context available
- Literature evidence available