p.Pro226dup variant of SMN1 (Survival motor neuron protein)
p.Pro226dup 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 and published literature.
p.Pro226dup variant details
- rs1408167278
- gnomAD 5-70069270-G-GCCA
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.144
- CADD 8.98
- Most common in the East Asian population (allele frequency 0.00015)
- Literature evidence available