T223M (p.Thr223Met) variant of TBX5 (T-box transcription factor TBX5)
T223M (p.Thr223Met) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Aortic valve disease 2; not provided; Holt-Oram syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
T223M (p.Thr223Met) variant details
- p.Thr223Met
- rs1555225344
- ClinGen CA386859862
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10009
- Pathogenic
- Aortic valve disease 2; not provided; Holt-Oram syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.54
- ClinVar: Pathogenic (Aortic valve disease 2; not provided; Holt-Oram syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Holt-Oram Syndrome. (PMID 20301290)