P35L (p.Pro35Leu) variant of TBX5 (T-box transcription factor TBX5)
P35L (p.Pro35Leu) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Aortic valve disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes structural context.
P35L (p.Pro35Leu) variant details
- p.Pro35Leu
- rs776705102
- ExAC rs776705102
- TOPMed rs776705102
- gnomAD rs776705102
- Conflicting interpretations
- Cardiovascular phenotype; Aortic valve disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- AlphaMissense 0.07
- MetaLR 0.43
- MetaSVM -0.35
- PolyPhen-2 0.01
- SIFT 0.25
- MutPred 0.28
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Aortic valve disease 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available