I91F (p.Ile91Phe) variant of TBX20 (T-box transcription factor TBX20)
I91F (p.Ile91Phe) 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 TBX20-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
I91F (p.Ile91Phe) variant details
- p.Ile91Phe
- rs2546997377
- ClinGen CA367265129
- ClinVar RCV003405838
- Uncertain significance
- TBX20-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.29
- CADD 21.10
- PolyPhen-2 0.03
- SIFT 0.34
- ClinVar: Uncertain significance (TBX20-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available