F232L (p.Phe232Leu) variant of TBX5 (T-box transcription factor TBX5)
F232L (p.Phe232Leu) 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 Holt-Oram syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
F232L (p.Phe232Leu) variant details
- p.Phe232Leu
- rs1565935405
- ClinGen CA386859744
- ClinVar RCV003318328
- Pathogenic
- Holt-Oram syndrome
- 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 (Holt-Oram syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Holt-Oram Syndrome. (PMID 20301290)