E99G (p.Glu99Gly) variant of BIN1 (O00499)
E99G (p.Glu99Gly) in BIN1 (O00499) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E99G (p.Glu99Gly) variant details
- p.Glu99Gly
- Ensembl rs1685747063
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.26
- CADD 24.90
- PolyPhen-2 0.23
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available