K99R (p.Lys99Arg) variant of TBX20 (T-box transcription factor TBX20)
K99R (p.Lys99Arg) 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 0.39 / 1. The record also includes population frequency data and structural context.
K99R (p.Lys99Arg) variant details
- p.Lys99Arg
- rs2546997347
- ClinGen CA367265070
- ClinVar RCV004127181
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.24
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available