S5R (p.Ser5Arg) variant of SMN1 (Survival motor neuron protein)
S5R (p.Ser5Arg) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S5R (p.Ser5Arg) variant details
- p.Ser5Arg
- TOPMed rs1774432497
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.30
- CADD 20.00
- PolyPhen-2 0.16
- SIFT 0.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available