L20L (p.Leu20Leu) variant of SMN1 (Survival motor neuron protein)
L20L (p.Leu20Leu) in SMN1 (Survival motor neuron protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L20L (p.Leu20Leu) variant details
- p.Leu20Leu
- gnomAD 5-70049743-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.404
- CADD 14.50
- Population evidence available
- Structural context available
- Literature evidence available