G96C (p.Gly96Cys) variant of BIN1 (O00499)
G96C (p.Gly96Cys) 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 0.75 / 1. The record also includes population frequency data and structural context.
G96C (p.Gly96Cys) variant details
- p.Gly96Cys
- ExAC rs769724273
- TOPMed rs769724273
- gnomAD rs769724273
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.73
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available