C110Y (p.Cys110Tyr) variant of APOH (Beta-2-glycoprotein 1)
C110Y (p.Cys110Tyr) 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 0.85 / 1. The record also includes population frequency data and structural context.
C110Y (p.Cys110Tyr) variant details
- p.Cys110Tyr
- rs779872282
- ExAC rs779872282
- TOPMed rs779872282
- gnomAD rs779872282
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.90
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available