P219P (p.Pro219Pro) variant of SMN1 (Survival motor neuron protein)
P219P (p.Pro219Pro) in SMN1 (Survival motor neuron protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and published literature.
P219P (p.Pro219Pro) variant details
- p.Pro219Pro
- gnomAD 5-70069264-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0835
- CADD 0.40
- Population evidence available
- Literature evidence available