E158K (p.Glu158Lys) variant of BIN1 (O00499)
E158K (p.Glu158Lys) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E158K (p.Glu158Lys) variant details
- p.Glu158Lys
- rs764377144
- ClinGen CA1857470
- ClinVar RCV000636907
- ExAC rs764377144
- Uncertain significance
- Myopathy, centronuclear, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.18
- CADD 24.20
- PolyPhen-2 0.02
- SIFT 0.03
- ClinVar: Uncertain significance (Myopathy, centronuclear, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Clinical utility gene card for: Centronuclear and myotubular myopathies. (PMID 22617344)