A19V (p.Ala19Val) variant of APOH (Beta-2-glycoprotein 1)
A19V (p.Ala19Val) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- TOPMed rs1226137850
- gnomAD rs1226137850
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.15
- CADD 22.40
- PolyPhen-2 0.28
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available