E2K (p.Glu2Lys) variant of TBX20 (T-box transcription factor TBX20)
E2K (p.Glu2Lys) 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; Atrial septal defect 4; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- rs752468331
- ClinGen CA4217622
- ClinVar RCV001703394
- ClinVar RCV002334648
- Uncertain significance
- not provided; Atrial septal defect 4; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.55
- CADD 28.90
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Atrial septal defect 4; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available