I54T (p.Ile54Thr) variant of TBX5 (T-box transcription factor TBX5)
I54T (p.Ile54Thr) 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 0.53 / 1. The record also includes published literature and structural context.
I54T (p.Ile54Thr) variant details
- p.Ile54Thr
- rs104894384
- ClinGen CA254304
- ClinVar RCV000008462
- UniProt VAR 015382
- Pathogenic
- Holt-Oram syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- AlphaMissense 0.88
- MetaLR 0.58
- MetaSVM 0.32
- PolyPhen-2 0.10
- SIFT 0.01
- EVE 0.30
- ClinVar: Pathogenic (Holt-Oram syndrome)
- EBI: Pathogenic (in HOS)
- UniProt: Pathogenic (in HOS)
- Structural context available
- Cited in: Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome. (PMID 10842287)
- Cited in: Holt-Oram Syndrome. (PMID 20301290)