P139S (p.Pro139Ser) variant of APOH (Beta-2-glycoprotein 1)
P139S (p.Pro139Ser) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P139S (p.Pro139Ser) variant details
- p.Pro139Ser
- ESP rs141252899
- ExAC rs141252899
- TOPMed rs141252899
- gnomAD rs141252899
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.07
- CADD 20.40
- PolyPhen-2 0.02
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available