S4S (p.Ser4Ser) variant of SMN1 (Survival motor neuron protein)
S4S (p.Ser4Ser) 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.
S4S (p.Ser4Ser) variant details
- p.Ser4Ser
- rs1774432178
- gnomAD 5-70049697-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.139
- CADD 8.24
- Population evidence available
- Structural context available
- Literature evidence available