G96R (p.Gly96Arg) variant of BIN1 (O00499)
G96R (p.Gly96Arg) in BIN1 (O00499) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
G96R (p.Gly96Arg) variant details
- p.Gly96Arg
- ExAC rs769724273
- TOPMed rs769724273
- gnomAD rs769724273
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.65
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available