E27G (p.Glu27Gly) variant of BIN1 (O00499)
E27G (p.Glu27Gly) in BIN1 (O00499) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
E27G (p.Glu27Gly) variant details
- p.Glu27Gly
- TOPMed rs1310221552
- gnomAD rs1310221552
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.30
- CADD 25.70
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available