Q27Q (p.Gln27Gln) variant of SMN1 (Survival motor neuron protein)
Q27Q (p.Gln27Gln) in SMN1 (Survival motor neuron protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
Q27Q (p.Gln27Gln) variant details
- p.Gln27Gln
- rs1232696462
- gnomAD 5-70049766-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.651
- CADD 26.00
- Population evidence available
- Structural context available
- Literature evidence available