S266P (p.Ser266Pro) variant of SMN1 (Survival motor neuron protein)
S266P (p.Ser266Pro) in SMN1 (Survival motor neuron protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data.
S266P (p.Ser266Pro) variant details
- p.Ser266Pro
- rs1561500885
- ClinGen CA360097052
- ClinVar RCV000785804
- Ensembl rs1561500885
- Pathogenic/Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.92
- CADD 24.30
- PolyPhen-2 0.85
- SIFT 0.06
- ClinVar: Pathogenic/Likely pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available