G80E (p.Gly80Glu) variant of TBX5 (T-box transcription factor TBX5)
G80E (p.Gly80Glu) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Aortic valve disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
G80E (p.Gly80Glu) variant details
- p.Gly80Glu
- rs1871830806
- ClinGen CA386862962
- ClinVar RCV001067927
- ClinVar RCV001759841
- Conflicting interpretations
- not provided; Aortic valve disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Conflicting classifications of pathogenicity (not provided; Aortic valve disease 2)
- EBI: Pathogenic (in HOS)
- UniProt: Pathogenic (in HOS)
- Structural context available