A182T (p.Ala182Thr) variant of BIN1 (O00499)
A182T (p.Ala182Thr) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A182T (p.Ala182Thr) variant details
- p.Ala182Thr
- rs779607755
- ClinGen CA1857438
- ClinVar RCV001342312
- ExAC rs779607755
- Uncertain significance
- Myopathy, centronuclear, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.13
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.20
- ClinVar: Uncertain significance (Myopathy, centronuclear, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Clinical utility gene card for: Centronuclear and myotubular myopathies. (PMID 22617344)