G9G (p.Gly9Gly) variant of SMN1 (Survival motor neuron protein)
G9G (p.Gly9Gly) in SMN1 (Survival motor neuron protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
G9G (p.Gly9Gly) variant details
- p.Gly9Gly
- gnomAD 5-70049712-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.141
- CADD 8.55
- Population evidence available
- Structural context available
- Literature evidence available