Y130H (p.Tyr130His) variant of SMN1 (Survival motor neuron protein)
Y130H (p.Tyr130His) 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 Kugelberg-Welander disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature.
Y130H (p.Tyr130His) variant details
- p.Tyr130His
- rs397514518
- Ensembl rs397514518
- ClinGen CA261142
- ClinVar RCV000032709
- Pathogenic
- Kugelberg-Welander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- AlphaMissense 0.96
- MetaLR 0.88
- MetaSVM 0.94
- SIFT 0.00
- MutPred 0.94
- ClinVar: Pathogenic (Kugelberg-Welander disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Genotype-phenotype relationship in 2 SMA III patients with novel mutations in the Tudor domain. (PMID 22323744)
- Cited in: Consensus statement for standard of care in spinal muscular atrophy. (PMID 17761659)