A100E (p.Ala100Glu) variant of BIN1 (O00499)
A100E (p.Ala100Glu) in BIN1 (O00499) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A100E (p.Ala100Glu) variant details
- p.Ala100Glu
- gnomAD rs1267741868
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.17
- CADD 23.00
- PolyPhen-2 0.04
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available