G235E (p.Gly235Glu) variant of TBX5 (T-box transcription factor TBX5)
G235E (p.Gly235Glu) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Holt-Oram syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
G235E (p.Gly235Glu) variant details
- p.Gly235Glu
- rs1870765797
- ClinGen CA386859693
- cosmic curated COSV10511
- ClinVar RCV001334303
- Likely pathogenic
- Holt-Oram syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Likely pathogenic (Holt-Oram syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Holt-Oram Syndrome. (PMID 20301290)