G144E (p.Gly144Glu) variant of BIN1 (O00499)
G144E (p.Gly144Glu) in BIN1 (O00499) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G144E (p.Gly144Glu) variant details
- p.Gly144Glu
- gnomAD rs1187515545
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.23
- CADD 24.50
- PolyPhen-2 0.61
- SIFT 0.11
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available