P132L (p.Pro132Leu) variant of APOH (Beta-2-glycoprotein 1)
P132L (p.Pro132Leu) in APOH (Beta-2-glycoprotein 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P132L (p.Pro132Leu) variant details
- p.Pro132Leu
- rs763687723
- ExAC rs763687723
- TOPMed rs763687723
- gnomAD rs763687723
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.08
- CADD 2.89
- PolyPhen-2 0.12
- SIFT 0.34
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available