A34D (p.Ala34Asp) variant of TBX5 (T-box transcription factor TBX5)
A34D (p.Ala34Asp) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Aortic valve disease 2; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A34D (p.Ala34Asp) variant details
- p.Ala34Asp
- rs761952835
- ClinGen CA6809720
- cosmic curated COSV59858
- ClinVar RCV001768833
- Uncertain significance
- Aortic valve disease 2; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.17
- CADD 23.00
- PolyPhen-2 0.02
- SIFT 0.03
- ClinVar: Uncertain significance (Aortic valve disease 2; Cardiovascular phenotype; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available