I39V (p.Ile39Val) variant of TBX20 (T-box transcription factor TBX20)
I39V (p.Ile39Val) 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 Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
I39V (p.Ile39Val) variant details
- p.Ile39Val
- rs371697707
- ClinGen CA4217597
- ClinVar RCV001908932
- ClinVar RCV006352591
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.28
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.19
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available