M75T (p.Met75Thr) variant of BIN1 (O00499)
M75T (p.Met75Thr) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
M75T (p.Met75Thr) variant details
- p.Met75Thr
- rs1024658796
- ClinGen CA55321794
- ClinVar RCV001350205
- TOPMed rs1024658796
- Uncertain significance
- Myopathy, centronuclear, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.56
- CADD 23.40
- PolyPhen-2 0.18
- 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 1.2e-05)
- Structural context available
- Cited in: Clinical utility gene card for: Centronuclear and myotubular myopathies. (PMID 22617344)