G60E (p.Gly60Glu) variant of APOH (Beta-2-glycoprotein 1)
G60E (p.Gly60Glu) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
G60E (p.Gly60Glu) variant details
- p.Gly60Glu
- ExAC rs780503271
- gnomAD rs780503271
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.12
- CADD 15.10
- PolyPhen-2 0.55
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available