R22Q (p.Arg22Gln) variant of SMN1 (Survival motor neuron protein)
R22Q (p.Arg22Gln) in SMN1 (Survival motor neuron protein) is a missense 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.
R22Q (p.Arg22Gln) variant details
- p.Arg22Gln
- gnomAD 5-70049750-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.37
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available