G279G (p.Gly279Gly) variant of SMN1 (Survival motor neuron protein)
G279G (p.Gly279Gly) in SMN1 (Survival motor neuron protein) is a protein-truncating 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.
G279G (p.Gly279Gly) variant details
- p.Gly279Gly
- gnomAD 5-70076523-T-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.15
- CADD 9.77
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available