I47N (p.Ile47Asn) variant of APOH (Beta-2-glycoprotein 1)
I47N (p.Ile47Asn) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
I47N (p.Ile47Asn) variant details
- p.Ile47Asn
- TOPMed rs1233203452
- gnomAD rs1233203452
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.64
- CADD 25.20
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available