R134W (p.Arg134Trp) variant of TBX20 (T-box transcription factor TBX20)
R134W (p.Arg134Trp) 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 0.81 / 1. The record also includes population frequency data and structural context.
R134W (p.Arg134Trp) variant details
- p.Arg134Trp
- rs2546996531
- ClinGen CA367264821
- ClinVar RCV002979153
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.87
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available