G11G (p.Gly11Gly) variant of SMN1 (Survival motor neuron protein)
G11G (p.Gly11Gly) in SMN1 (Survival motor neuron protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
G11G (p.Gly11Gly) variant details
- p.Gly11Gly
- rs1774434325
- gnomAD 5-70049718-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.151
- CADD 9.96
- Population evidence available
- Structural context available
- Literature evidence available