K66I (p.Lys66Ile) variant of TBX5 (T-box transcription factor TBX5)
K66I (p.Lys66Ile) in TBX5 (T-box transcription factor TBX5) 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 0.72 / 1. The record also includes structural context.
K66I (p.Lys66Ile) variant details
- p.Lys66Ile
- rs1457871803
- ClinGen CA386863134
- ClinVar RCV004474328
- TOPMed rs1457871803
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- AlphaMissense 0.92
- MetaLR 0.77
- MetaSVM 0.70
- PolyPhen-2 0.11
- SIFT 0.00
- EVE 0.61
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available