T4K (p.Thr4Lys) variant of TBX20 (T-box transcription factor TBX20)
T4K (p.Thr4Lys) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
T4K (p.Thr4Lys) variant details
- p.Thr4Lys
- rs759458240
- ClinGen CA4217620
- ClinVar RCV003735975
- ClinVar RCV005505742
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.53
- CADD 23.40
- PolyPhen-2 0.26
- SIFT 0.06
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available