S176L (p.Ser176Leu) variant of BIN1 (O00499)
S176L (p.Ser176Leu) 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.
S176L (p.Ser176Leu) variant details
- p.Ser176Leu
- rs776075897
- ClinGen CA1857441
- cosmic curated COSV52117
- ClinVar RCV001037966
- Uncertain significance
- Myopathy, centronuclear, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.18
- CADD 25.00
- PolyPhen-2 0.11
- SIFT 0.04
- 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)