R139C (p.Arg139Cys) variant of BIN1 (O00499)
R139C (p.Arg139Cys) in BIN1 (O00499) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R139C (p.Arg139Cys) variant details
- p.Arg139Cys
- ExAC rs777348282
- TOPMed rs777348282
- gnomAD rs777348282
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.37
- CADD 25.70
- PolyPhen-2 0.08
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available