G10G (p.Gly10Gly) variant of SMN1 (Survival motor neuron protein)
G10G (p.Gly10Gly) in SMN1 (Survival motor neuron protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
G10G (p.Gly10Gly) variant details
- p.Gly10Gly
- rs1290224606
- gnomAD 5-70049715-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.162
- CADD 11.50
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available