R22L (p.Arg22Leu) variant of SMN1 (Survival motor neuron protein)
R22L (p.Arg22Leu) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R22L (p.Arg22Leu) variant details
- p.Arg22Leu
- gnomAD 5-70049750-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.50
- CADD 23.50
- PolyPhen-2 0.07
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available