A19T (p.Ala19Thr) variant of APOH (Beta-2-glycoprotein 1)
A19T (p.Ala19Thr) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A19T (p.Ala19Thr) variant details
- p.Ala19Thr
- Ensembl rs1450152076
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.20
- CADD 22.80
- PolyPhen-2 0.18
- SIFT 0.04
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available