R96L (p.Arg96Leu) variant of APOH (Beta-2-glycoprotein 1)
R96L (p.Arg96Leu) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R96L (p.Arg96Leu) variant details
- p.Arg96Leu
- ESP rs138847585
- ExAC rs138847585
- gnomAD rs138847585
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.17
- CADD 23.00
- PolyPhen-2 0.34
- SIFT 0.12
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available