A119T (p.Ala119Thr) variant of APOH (Beta-2-glycoprotein 1)
A119T (p.Ala119Thr) in APOH (Beta-2-glycoprotein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A119T (p.Ala119Thr) variant details
- p.Ala119Thr
- rs189980938
- ClinGen CA8720406
- ClinVar RCV004304331
- 1000Genomes rs189980938
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.03
- CADD 1.21
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available