G117D (p.Gly117Asp) variant of TBX20 (T-box transcription factor TBX20)
G117D (p.Gly117Asp) in TBX20 (T-box transcription factor TBX20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
G117D (p.Gly117Asp) variant details
- p.Gly117Asp
- rs138597530
- ClinGen CA367264944
- ClinVar RCV002224152
- ESP rs138597530
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.92
- CADD 27.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available