R237W (p.Arg237Trp) variant of TBX5 (T-box transcription factor TBX5)
R237W (p.Arg237Trp) 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 Cardiovascular phenotype; Aortic valve disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
R237W (p.Arg237Trp) variant details
- p.Arg237Trp
- rs104894382
- ClinGen CA163404
- ClinVar RCV000008459
- ClinVar RCV000128627
- Pathogenic
- Cardiovascular phenotype; Aortic valve disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.57
- ClinVar: Pathogenic (Cardiovascular phenotype; Aortic valve disease 2)
- EBI: Pathogenic (in HOS)
- UniProt: Pathogenic (in HOS)
- Structural context available
- Cited in: Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. (PMID 10077612)
- Cited in: Structural basis of TBX5-DNA recognition: the T-box domain in its DNA-bound and -unbound form. (PMID 20450920)