V94F (p.Val94Phe) variant of SMN1 (Survival motor neuron protein)
V94F (p.Val94Phe) in SMN1 (Survival motor neuron protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Werdnig-Hoffmann disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature.
V94F (p.Val94Phe) variant details
- p.Val94Phe
- rs1749440512
- ClinGen CA360093320
- ClinVar RCV001194654
- Ensembl rs1749440512
- Likely pathogenic
- Werdnig-Hoffmann disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- AlphaMissense 0.46
- MetaLR 0.95
- MetaSVM 1.05
- SIFT 0.00
- MutPred 0.66
- ClinVar: Likely pathogenic (Werdnig-Hoffmann disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Consensus statement for standard of care in spinal muscular atrophy. (PMID 17761659)
- Cited in: Spinal Muscular Atrophy. (PMID 20301526)