E105K (p.Glu105Lys) variant of BIN1 (O00499)
E105K (p.Glu105Lys) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
E105K (p.Glu105Lys) variant details
- p.Glu105Lys
- rs1685745258
- ClinGen CA348369308
- ClinVar RCV001215101
- Ensembl rs1685745258
- Uncertain significance
- Myopathy, centronuclear, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.32
- CADD 23.50
- PolyPhen-2 0.04
- SIFT 0.13
- ClinVar: Uncertain significance (Myopathy, centronuclear, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Clinical utility gene card for: Centronuclear and myotubular myopathies. (PMID 22617344)