S252T (p.Ser252Thr) variant of TBX5 (T-box transcription factor TBX5)
S252T (p.Ser252Thr) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Aortic valve disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
S252T (p.Ser252Thr) variant details
- p.Ser252Thr
- rs863223776
- ClinGen CA10588541
- ClinVar RCV000255260
- ClinVar RCV000782337
- Likely pathogenic
- not provided; Aortic valve disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- AlphaMissense 0.69
- MetaLR 0.66
- MetaSVM 0.35
- PolyPhen-2 0.33
- SIFT 0.01
- MutPred 0.70
- ClinVar: Likely pathogenic (not provided; Aortic valve disease 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Holt-Oram Syndrome. (PMID 20301290)