Y272C (p.Tyr272Cys) variant of SMN1 (Survival motor neuron protein)
Y272C (p.Tyr272Cys) in SMN1 (Survival motor neuron protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Spinal muscular atrophy; not provided; Werdnig-Hoffmann disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Y272C (p.Tyr272Cys) variant details
- p.Tyr272Cys
- Ensembl rs1428103360
- Pathogenic/Likely pathogenic
- Spinal muscular atrophy; not provided; Werdnig-Hoffmann disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.97
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Spinal muscular atrophy; not provided; Werdnig-Hoffmann disease)
- EBI: Pathogenic (in SMA1)
- UniProt: Pathogenic (in SMA1)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins. (PMID 10500148)
- Cited in: Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7. (PMID 10732817)