S4R (p.Ser4Arg) variant of SMN1 (Survival motor neuron protein)
S4R (p.Ser4Arg) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S4R (p.Ser4Arg) variant details
- p.Ser4Arg
- Ensembl rs1774432178
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.33
- CADD 3.24
- Population evidence available
- Structural context available