E25K (p.Glu25Lys) variant of ADH1B (P00325)
E25K (p.Glu25Lys) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E25K (p.Glu25Lys) variant details
- p.Glu25Lys
- TOPMed rs1037809204
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.27
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available