T59A (p.Thr59Ala) variant of TBX20 (T-box transcription factor TBX20)
T59A (p.Thr59Ala) 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 0.36 / 1. The record also includes population frequency data and structural context.
T59A (p.Thr59Ala) variant details
- p.Thr59Ala
- rs372887264
- ClinGen CA4217563
- ClinVar RCV003007250
- ESP rs372887264
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.29
- CADD 15.90
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available