I39M (p.Ile39Met) variant of TBX20 (T-box transcription factor TBX20)
I39M (p.Ile39Met) 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 Atrial septal defect 4; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
I39M (p.Ile39Met) variant details
- p.Ile39Met
- rs1562569196
- ClinGen CA367265468
- ClinVar RCV000770947
- ClinVar RCV003611531
- Uncertain significance
- Atrial septal defect 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- AlphaMissense 0.19
- MetaLR 0.51
- MetaSVM -0.20
- PolyPhen-2 0.23
- SIFT 0.09
- MutPred 0.23
- ClinVar: Uncertain significance (Atrial septal defect 4; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)
- Cited in: 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic… (PMID 25173340)