P95L (p.Pro95Leu) variant of BIN1 (O00499)
P95L (p.Pro95Leu) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P95L (p.Pro95Leu) variant details
- p.Pro95Leu
- rs1685750277
- ClinGen CA348369398
- ClinVar RCV003620197
- TOPMed rs1685750277
- Uncertain significance
- Myopathy, centronuclear, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.15
- CADD 18.10
- ClinVar: Uncertain significance (Myopathy, centronuclear, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Clinical utility gene card for: Centronuclear and myotubular myopathies. (PMID 22617344)