G24G (p.Gly24Gly) variant of SMN1 (Survival motor neuron protein)
G24G (p.Gly24Gly) in SMN1 (Survival motor neuron protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G24G (p.Gly24Gly) variant details
- p.Gly24Gly
- rs1264293029
- gnomAD 5-70049757-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.366
- CADD 13.30
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available