P246P (p.Pro246Pro) variant of SMN1 (Survival motor neuron protein)
P246P (p.Pro246Pro) in SMN1 (Survival motor neuron protein) is a synonymous 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.
P246P (p.Pro246Pro) variant details
- p.Pro246Pro
- gnomAD 5-70070655-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.145
- CADD 9.15
- Population evidence available
- Literature evidence available