P81L (p.Pro81Leu) variant of APOH (Beta-2-glycoprotein 1)
P81L (p.Pro81Leu) in APOH (Beta-2-glycoprotein 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
P81L (p.Pro81Leu) variant details
- p.Pro81Leu
- ESP rs373786395
- ExAC rs373786395
- TOPMed rs373786395
- gnomAD rs373786395
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.60
- CADD 31.00
- PolyPhen-2 0.80
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available