V56M (p.Val56Met) variant of APOH (Beta-2-glycoprotein 1)
V56M (p.Val56Met) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
V56M (p.Val56Met) variant details
- p.Val56Met
- TOPMed rs1025512314
- gnomAD rs1025512314
- Missense
- Variant Prioritization Score for Impact Estimate 0.0639
- REVEL 0.07
- CADD 0.44
- PolyPhen-2 0.02
- SIFT 0.11
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available