S252I (p.Ser252Ile) variant of TBX5 (T-box transcription factor TBX5)
S252I (p.Ser252Ile) 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 Aortic valve disease 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes structural context.
S252I (p.Ser252Ile) variant details
- p.Ser252Ile
- rs863223776
- ClinGen CA16613669
- ClinVar RCV000466448
- ClinVar RCV005639128
- Pathogenic/Likely pathogenic
- Aortic valve disease 2; not provided
- 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: Pathogenic/Likely pathogenic (Aortic valve disease 2; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available