V34A (p.Val34Ala) variant of APOH (Beta-2-glycoprotein 1)
V34A (p.Val34Ala) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
V34A (p.Val34Ala) variant details
- p.Val34Ala
- TOPMed rs1567743212
- gnomAD rs1567743212
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.40
- CADD 21.30
- PolyPhen-2 0.17
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available