G113R (p.Gly113Arg) variant of APOH (Beta-2-glycoprotein 1)
G113R (p.Gly113Arg) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
G113R (p.Gly113Arg) variant details
- p.Gly113Arg
- Ensembl rs2073437099
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.72
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available