Q121H (p.Gln121His) variant of BIN1 (O00499)
Q121H (p.Gln121His) 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 0.30 / 1. The record also includes population frequency data and structural context.
Q121H (p.Gln121His) variant details
- p.Gln121His
- ExAC rs757907934
- TOPMed rs757907934
- gnomAD rs757907934
- Uncertain significance
- Myopathy, centronuclear, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.09
- CADD 23.20
- PolyPhen-2 0.59
- SIFT 0.22
- ClinVar: Uncertain significance (Myopathy, centronuclear, 2)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available