Y127H (p.Tyr127His) variant of SMN1 (Survival motor neuron protein)
Y127H (p.Tyr127His) 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 Kugelberg-Welander disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
Y127H (p.Tyr127His) variant details
- p.Tyr127His
- rs1749441633
- ClinGen CA360094202
- ClinVar RCV001089661
- Ensembl rs1749441633
- Likely pathogenic
- Kugelberg-Welander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- AlphaMissense 0.98
- MetaLR 0.86
- MetaSVM 0.89
- SIFT 0.00
- MutPred 0.92
- ClinVar: Likely pathogenic (Kugelberg-Welander disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Consensus statement for standard of care in spinal muscular atrophy. (PMID 17761659)
- Cited in: Spinal Muscular Atrophy. (PMID 20301526)