K97E (p.Lys97Glu) variant of TBX5 (T-box transcription factor TBX5)
K97E (p.Lys97Glu) 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 0.66 / 1. The record also includes population frequency data and structural context.
K97E (p.Lys97Glu) variant details
- p.Lys97Glu
- rs749255660
- ClinGen CA6809648
- ClinVar RCV002438009
- ExAC rs749255660
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.68
- CADD 25.60
- PolyPhen-2 0.89
- SIFT 0.06
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available