A34S (p.Ala34Ser) variant of TBX5 (T-box transcription factor TBX5)
A34S (p.Ala34Ser) 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 0.28 / 1. The record also includes population frequency data and structural context.
A34S (p.Ala34Ser) variant details
- p.Ala34Ser
- rs368311885
- ClinGen CA6809721
- ClinVar RCV001301593
- ClinVar RCV002437022
- Conflicting interpretations
- Cardiovascular phenotype; Aortic valve disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.19
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Aortic valve disease 2)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available