S18F (p.Ser18Phe) variant of SMN1 (Survival motor neuron protein)
S18F (p.Ser18Phe) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S18F (p.Ser18Phe) variant details
- p.Ser18Phe
- Ensembl rs1774435054
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.33
- CADD 22.50
- PolyPhen-2 0.10
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available