S8G (p.Ser8Gly) variant of SMN1 (Survival motor neuron protein)
S8G (p.Ser8Gly) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S8G (p.Ser8Gly) variant details
- p.Ser8Gly
- gnomAD 5-70049707-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.25
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.39
- Population evidence available
- Structural context available
- Literature evidence available