P36L (p.Pro36Leu) variant of APOH (Beta-2-glycoprotein 1)
P36L (p.Pro36Leu) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
P36L (p.Pro36Leu) variant details
- p.Pro36Leu
- ESP rs371938974
- ExAC rs371938974
- TOPMed rs371938974
- gnomAD rs371938974
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.30
- CADD 23.10
- PolyPhen-2 0.59
- SIFT 0.05
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available