A34V (p.Ala34Val) variant of TBX5 (T-box transcription factor TBX5)
A34V (p.Ala34Val) 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 Aortic valve disease 2; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- rs761952835
- ClinGen CA6809719
- cosmic curated COSV10644
- ClinVar RCV001872339
- Conflicting interpretations
- Aortic valve disease 2; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.18
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Aortic valve disease 2; Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available