E91K (p.Glu91Lys) variant of BIN1 (O00499)
E91K (p.Glu91Lys) in BIN1 (O00499) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
E91K (p.Glu91Lys) variant details
- p.Glu91Lys
- gnomAD rs1292748182
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.31
- CADD 23.30
- PolyPhen-2 0.15
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available