P53L (p.Pro53Leu) variant of APOH (Beta-2-glycoprotein 1)
P53L (p.Pro53Leu) in APOH (Beta-2-glycoprotein 1) 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.
P53L (p.Pro53Leu) variant details
- p.Pro53Leu
- ESP rs371962881
- ExAC rs371962881
- TOPMed rs371962881
- gnomAD rs371962881
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.43
- CADD 24.30
- PolyPhen-2 0.78
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available