R139H (p.Arg139His) variant of BIN1 (O00499)
R139H (p.Arg139His) in BIN1 (O00499) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Myopathy, centronuclear, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R139H (p.Arg139His) variant details
- p.Arg139His
- rs755355125
- ClinGen CA1857478
- NCI-TCGA Cosmic COSV5211
- ClinVar RCV000431154
- Uncertain significance
- not provided; Myopathy, centronuclear, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.54
- CADD 30.00
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Myopathy, centronuclear, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Clinical utility gene card for: Centronuclear and myotubular myopathies. (PMID 22617344)