Y97H (p.Tyr97His) variant of APOH (Beta-2-glycoprotein 1)
Y97H (p.Tyr97His) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
Y97H (p.Tyr97His) variant details
- p.Tyr97His
- TOPMed rs113600096
- gnomAD rs113600096
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.31
- CADD 27.60
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available