Q15R (p.Gln15Arg) variant of SMN1 (Survival motor neuron protein)
Q15R (p.Gln15Arg) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Q15R (p.Gln15Arg) variant details
- p.Gln15Arg
- gnomAD 5-70049729-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.40
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available