I100L (p.Ile100Leu) variant of TBX20 (T-box transcription factor TBX20)
I100L (p.Ile100Leu) 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 0.56 / 1. The record also includes population frequency data and structural context.
I100L (p.Ile100Leu) variant details
- p.Ile100Leu
- rs757103622
- ClinGen CA4217543
- ClinVar RCV003560130
- ExAC rs757103622
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.54
- CADD 23.10
- PolyPhen-2 0.06
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available