F232V (p.Phe232Val) variant of TBX5 (T-box transcription factor TBX5)
F232V (p.Phe232Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
F232V (p.Phe232Val) variant details
- p.Phe232Val
- rs1565935405
- ClinGen CA386859743
- ClinVar RCV000782318
- ClinVar RCV006464223
- Pathogenic
- Aortic valve disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Pathogenic (Aortic valve disease 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Holt-Oram Syndrome. (PMID 20301290)