R96H (p.Arg96His) variant of APOH (Beta-2-glycoprotein 1)
R96H (p.Arg96His) 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 0.35 / 1. The record also includes population frequency data and structural context.
R96H (p.Arg96His) variant details
- p.Arg96His
- rs138847585
- ESP rs138847585
- ExAC rs138847585
- gnomAD rs138847585
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.07
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.25
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available