I47T (p.Ile47Thr) variant of APOH (Beta-2-glycoprotein 1)
I47T (p.Ile47Thr) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
I47T (p.Ile47Thr) variant details
- p.Ile47Thr
- TOPMed rs1233203452
- gnomAD rs1233203452
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.53
- CADD 23.30
- PolyPhen-2 0.95
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available