Y115H (p.Tyr115His) variant of APOH (Beta-2-glycoprotein 1)
Y115H (p.Tyr115His) in APOH (Beta-2-glycoprotein 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
Y115H (p.Tyr115His) variant details
- p.Tyr115His
- rs756210824
- ExAC rs756210824
- TOPMed rs756210824
- gnomAD rs756210824
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.12
- CADD 17.10
- PolyPhen-2 0.01
- SIFT 0.41
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available