P226del (p.Pro226del) variant of SMN1 (Survival motor neuron protein)
P226del (p.Pro226del) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and published literature.
P226del (p.Pro226del) variant details
- gnomAD 5-70069270-GCCA-G
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.146
- CADD 9.21
- Population evidence available
- Literature evidence available