G80R (p.Gly80Arg) variant of TBX5 (T-box transcription factor TBX5)
G80R (p.Gly80Arg) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Holt-Oram syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
G80R (p.Gly80Arg) variant details
- p.Gly80Arg
- rs104894381
- ClinGen CA254300
- ClinVar RCV000008458
- UniProt VAR 009701
- Pathogenic
- Holt-Oram syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic (Holt-Oram syndrome)
- EBI: Pathogenic (in HOS)
- UniProt: Pathogenic (in HOS)
- Structural context available
- Cited in: Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. (PMID 10077612)
- Cited in: Structural basis of TBX5-DNA recognition: the T-box domain in its DNA-bound and -unbound form. (PMID 20450920)