H76R (p.His76Arg) variant of BIN1 (O00499)
H76R (p.His76Arg) in BIN1 (O00499) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
H76R (p.His76Arg) variant details
- p.His76Arg
- ExAC rs764375566
- TOPMed rs764375566
- gnomAD rs764375566
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.35
- CADD 23.60
- PolyPhen-2 0.16
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available