I18T (p.Ile18Thr) variant of APOH (Beta-2-glycoprotein 1)
I18T (p.Ile18Thr) 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.
I18T (p.Ile18Thr) variant details
- p.Ile18Thr
- ExAC rs778339607
- gnomAD rs778339607
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.10
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available