T105K (p.Thr105Lys) variant of APOH (Beta-2-glycoprotein 1)
T105K (p.Thr105Lys) in APOH (Beta-2-glycoprotein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes structural context.
T105K (p.Thr105Lys) variant details
- p.Thr105Lys
- rs373470263
- ClinGen CA400683502
- ClinVar RCV004100777
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- AlphaMissense 0.08
- MetaLR 0.33
- MetaSVM -0.80
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.28
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available