T13S (p.Thr13Ser) variant of TBX5 (T-box transcription factor TBX5)
T13S (p.Thr13Ser) 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 Cardiovascular phenotype. 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.
T13S (p.Thr13Ser) variant details
- p.Thr13Ser
- rs1244677569
- ClinGen CA386863635
- ClinVar RCV003305470
- TOPMed rs1244677569
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.16
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available