A104T (p.Ala104Thr) variant of BIN1 (O00499)
A104T (p.Ala104Thr) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A104T (p.Ala104Thr) variant details
- p.Ala104Thr
- rs754932468
- ClinGen CA1857523
- cosmic curated COSV10959
- ClinVar RCV001369553
- Uncertain significance
- Myopathy, centronuclear, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.11
- CADD 22.00
- PolyPhen-2 0.02
- SIFT 0.13
- ClinVar: Uncertain significance (Myopathy, centronuclear, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Clinical utility gene card for: Centronuclear and myotubular myopathies. (PMID 22617344)