A169D (p.Ala169Asp) variant of BIN1 (O00499)
A169D (p.Ala169Asp) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A169D (p.Ala169Asp) variant details
- p.Ala169Asp
- rs775335446
- ClinGen CA1857468
- ClinVar RCV003510048
- ExAC rs775335446
- Uncertain significance
- Myopathy, centronuclear, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.08
- CADD 22.60
- PolyPhen-2 0.19
- SIFT 0.00
- ClinVar: Uncertain significance (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)