G28D (p.Gly28Asp) variant of TBX20 (T-box transcription factor TBX20)
G28D (p.Gly28Asp) 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 0.45 / 1. The record also includes population frequency data and structural context.
G28D (p.Gly28Asp) variant details
- p.Gly28Asp
- rs2546999434
- ClinGen CA367265545
- ClinVar RCV002624397
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.25
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.61
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available