I121M (p.Ile121Met) variant of TBX20 (T-box transcription factor TBX20)
I121M (p.Ile121Met) in TBX20 (T-box transcription factor TBX20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Atrial septal defect 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
I121M (p.Ile121Met) variant details
- p.Ile121Met
- rs267607106
- ClinGen CA116977
- ClinVar RCV000004897
- UniProt VAR 073144
- Pathogenic
- Atrial septal defect 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- AlphaMissense 1.00
- MetaLR 0.86
- MetaSVM 0.76
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Pathogenic (Atrial septal defect 4)
- EBI: Pathogenic (in ASD4)
- UniProt: Pathogenic (in ASD4)
- Structural context available
- Cited in: A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve… (PMID 19762328)
- Cited in: Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of… (PMID 17668378)