T89S (p.Thr89Ser) variant of TBX20 (T-box transcription factor TBX20)
T89S (p.Thr89Ser) in TBX20 (T-box transcription factor TBX20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
T89S (p.Thr89Ser) variant details
- p.Thr89Ser
- rs772683573
- ClinGen CA4217549
- ClinVar RCV003693005
- ClinVar RCV004992719
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- AlphaMissense 0.07
- MetaLR 0.39
- MetaSVM -0.56
- PolyPhen-2 0.02
- SIFT 0.69
- EVE 0.09
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available