R66L (p.Arg66Leu) variant of BIN1 (O00499)
R66L (p.Arg66Leu) in BIN1 (O00499) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R66L (p.Arg66Leu) variant details
- p.Arg66Leu
- TOPMed rs1685787289
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.24
- CADD 26.30
- PolyPhen-2 0.84
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available