E46V (p.Glu46Val) variant of APOH (Beta-2-glycoprotein 1)
E46V (p.Glu46Val) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
E46V (p.Glu46Val) variant details
- p.Glu46Val
- gnomAD rs1314485191
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.21
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available