E45D (p.Glu45Asp) variant of APOH (Beta-2-glycoprotein 1)
E45D (p.Glu45Asp) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
E45D (p.Glu45Asp) variant details
- p.Glu45Asp
- ExAC rs760724527
- gnomAD rs760724527
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.10
- CADD 13.30
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available