P84S (p.Pro84Ser) variant of TBX20 (T-box transcription factor TBX20)
P84S (p.Pro84Ser) 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 0.52 / 1. The record also includes population frequency data and structural context.
P84S (p.Pro84Ser) variant details
- p.Pro84Ser
- rs267601498
- ClinGen CA156929399
- ClinVar RCV003665678
- gnomAD rs267601498
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.35
- CADD 22.70
- PolyPhen-2 0.36
- SIFT 0.29
- 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