I133L (p.Ile133Leu) variant of TBX20 (T-box transcription factor TBX20)
I133L (p.Ile133Leu) 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 0.48 / 1. The record also includes population frequency data and structural context.
I133L (p.Ile133Leu) variant details
- p.Ile133Leu
- rs1475470182
- ClinGen CA367264829
- ClinVar RCV003085504
- TOPMed rs1475470182
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.39
- CADD 23.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available