K48E (p.Lys48Glu) variant of TBX20 (T-box transcription factor TBX20)
K48E (p.Lys48Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
K48E (p.Lys48Glu) variant details
- p.Lys48Glu
- rs2546997540
- ClinGen CA367265399
- ClinVar RCV002392019
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.25
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available