P139A (p.Pro139Ala) variant of APOH (Beta-2-glycoprotein 1)
P139A (p.Pro139Ala) 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 0.17 / 1. The record also includes population frequency data and structural context.
P139A (p.Pro139Ala) variant details
- p.Pro139Ala
- rs141252899
- ESP rs141252899
- ExAC rs141252899
- TOPMed rs141252899
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.04
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available