I116F (p.Ile116Phe) variant of SMN1 (Survival motor neuron protein)
I116F (p.Ile116Phe) in SMN1 (Survival motor neuron protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature.
I116F (p.Ile116Phe) variant details
- p.Ile116Phe
- rs104893933
- Ensembl rs104893933
- ClinGen CA254696
- ClinVar RCV000009757
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- AlphaMissense 0.26
- MetaLR 0.92
- MetaSVM 0.85
- SIFT 0.03
- MutPred 0.83
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in SMA1)
- UniProt: Pathogenic (in SMA1)
- Cited in: Detection of novel mutations in the SMN Tudor domain in type I SMA patients. (PMID 15249625)
- Cited in: HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects. (PMID 21088113)