S30R (p.Ser30Arg) variant of TBX5 (T-box transcription factor TBX5)
S30R (p.Ser30Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
S30R (p.Ser30Arg) variant details
- p.Ser30Arg
- rs1872000801
- ClinGen CA386863524
- ClinVar RCV003648973
- Uncertain significance
- Aortic valve disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.12
- CADD 12.70
- PolyPhen-2 0.01
- SIFT 0.18
- ClinVar: Uncertain significance (Aortic valve disease 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available