T82P (p.Thr82Pro) variant of TBX20 (T-box transcription factor TBX20)
T82P (p.Thr82Pro) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes structural context.
T82P (p.Thr82Pro) variant details
- p.Thr82Pro
- rs1790274812
- ClinGen CA367265185
- ClinVar RCV002624014
- ClinVar RCV005495499
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- AlphaMissense 0.10
- MetaLR 0.66
- MetaSVM 0.10
- PolyPhen-2 0.96
- SIFT 0.18
- EVE 0.07
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available