K124Q (p.Lys124Gln) variant of TBX20 (T-box transcription factor TBX20)
K124Q (p.Lys124Gln) 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 0.82 / 1. The record also includes population frequency data and structural context.
K124Q (p.Lys124Gln) variant details
- p.Lys124Gln
- rs1790271997
- ClinGen CA367264901
- ClinVar RCV003562917
- TOPMed rs1790271997
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.93
- CADD 29.70
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available