Q43E (p.Gln43Glu) variant of BIN1 (O00499)
Q43E (p.Gln43Glu) in BIN1 (O00499) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
Q43E (p.Gln43Glu) variant details
- p.Gln43Glu
- ExAC rs755092482
- gnomAD rs755092482
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.17
- CADD 23.70
- PolyPhen-2 0.08
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available