E57K (p.Glu57Lys) variant of BIN1 (O00499)
E57K (p.Glu57Lys) in BIN1 (O00499) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
E57K (p.Glu57Lys) variant details
- p.Glu57Lys
- TOPMed rs1685792717
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.41
- CADD 23.20
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available