S79F (p.Ser79Phe) variant of BIN1 (O00499)
S79F (p.Ser79Phe) in BIN1 (O00499) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Myopathy, centronuclear, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
S79F (p.Ser79Phe) variant details
- p.Ser79Phe
- rs1377099769
- ClinGen CA348369577
- ClinVar RCV001966428
- TOPMed rs1377099769
- Uncertain significance
- Myopathy, centronuclear, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.70
- CADD 31.00
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Uncertain significance (Myopathy, centronuclear, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Clinical utility gene card for: Centronuclear and myotubular myopathies. (PMID 22617344)