G69A (p.Gly69Ala) variant of TBX20 (T-box transcription factor TBX20)
G69A (p.Gly69Ala) 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 0.43 / 1. The record also includes structural context.
G69A (p.Gly69Ala) variant details
- p.Gly69Ala
- rs2128716158
- ClinGen CA367265262
- ClinVar RCV002029095
- Ensembl rs2128716158
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- AlphaMissense 0.07
- MetaLR 0.40
- MetaSVM -0.89
- PolyPhen-2 0.09
- SIFT 0.38
- MutPred 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available