F280L (p.Phe280Leu) variant of SMN1 (Survival motor neuron protein)
F280L (p.Phe280Leu) in SMN1 (Survival motor neuron protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
F280L (p.Phe280Leu) variant details
- p.Phe280Leu
- rs1164325688
- TOPMed rs1164325688
- gnomAD rs1164325688
- ClinGen CA360098141
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- AlphaMissense 0.80
- MetaLR 0.72
- MetaSVM -0.09
- SIFT 1.00
- MutPred 0.42
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available