I122V (p.Ile122Val) variant of TBX20 (T-box transcription factor TBX20)
I122V (p.Ile122Val) 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 0.60 / 1. The record also includes population frequency data and structural context.
I122V (p.Ile122Val) variant details
- p.Ile122Val
- rs754175462
- ClinGen CA4217536
- ClinVar RCV001967026
- ExAC rs754175462
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.59
- CADD 22.90
- PolyPhen-2 0.35
- SIFT 0.33
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available