R154L (p.Arg154Leu) variant of BIN1 (O00499)
R154L (p.Arg154Leu) in BIN1 (O00499) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in CNM2. The record also includes structural context.
R154L (p.Arg154Leu) variant details
- p.Arg154Leu
- TOPMed rs267606681
- Uncertain significance
- in CNM2
- Missense
- EBI: Variant of uncertain significance (in CNM2)
- UniProt: Uncertain significance (in CNM2)
- Structural context available