S5S (p.Ser5Ser) variant of SMN1 (Survival motor neuron protein)
S5S (p.Ser5Ser) 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.
S5S (p.Ser5Ser) variant details
- p.Ser5Ser
- rs1774432497
- gnomAD 5-70049700-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.138
- CADD 8.12
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available