R96C (p.Arg96Cys) variant of APOH (Beta-2-glycoprotein 1)
R96C (p.Arg96Cys) 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 0.49 / 1. The record also includes population frequency data and structural context.
R96C (p.Arg96Cys) variant details
- p.Arg96Cys
- rs142075038
- ESP rs142075038
- ExAC rs142075038
- gnomAD rs142075038
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.25
- CADD 29.50
- PolyPhen-2 0.86
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available