I243L (p.Ile243Leu) variant of SMN1 (Survival motor neuron protein)
I243L (p.Ile243Leu) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
I243L (p.Ile243Leu) variant details
- p.Ile243Leu
- gnomAD 5-70070644-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.51
- CADD 21.40
- PolyPhen-2 0.02
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available