K90R (p.Lys90Arg) variant of TBX5 (T-box transcription factor TBX5)
K90R (p.Lys90Arg) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar 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 0.58 / 1. The record also includes population frequency data and structural context.
K90R (p.Lys90Arg) variant details
- p.Lys90Arg
- gnomAD rs1400168801
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.52
- CADD 26.80
- PolyPhen-2 0.96
- SIFT 0.18
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available