R237Q (p.Arg237Gln) variant of TBX5 (T-box transcription factor TBX5)
R237Q (p.Arg237Gln) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; not provided; Aortic valve disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R237Q (p.Arg237Gln) variant details
- p.Arg237Gln
- rs104894378
- ClinGen CA254298
- ClinVar RCV000008457
- ClinVar RCV000196777
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Aortic valve disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.92
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 1.00
- CADD 29.50
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Aortic valve disease 2)
- EBI: Pathogenic (in HOS)
- UniProt: Pathogenic (in HOS)
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Cited in: Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. (PMID 10077612)
- Cited in: Mutation in myosin heavy chain 6 causes atrial septal defect. (PMID 15735645)