F51C (p.Phe51Cys) variant of BIN1 (O00499)
F51C (p.Phe51Cys) in BIN1 (O00499) is a missense change. Clinical records from ClinVar 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 0.74 / 1. The record also includes population frequency data and structural context.
F51C (p.Phe51Cys) variant details
- p.Phe51Cys
- TOPMed rs1184468227
- gnomAD rs1184468227
- Uncertain significance
- Myopathy, centronuclear, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.77
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Myopathy, centronuclear, 2)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available