G6G (p.Gly6Gly) variant of SMN1 (Survival motor neuron protein)
G6G (p.Gly6Gly) 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.
G6G (p.Gly6Gly) variant details
- p.Gly6Gly
- rs1439722209
- gnomAD 5-70049703-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.136
- CADD 7.76
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available