D18E (p.Asp18Glu) variant of TBX5 (T-box transcription factor TBX5)
D18E (p.Asp18Glu) 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 Holt-Oram syndrome; Aortic valve disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
D18E (p.Asp18Glu) variant details
- p.Asp18Glu
- rs1479545982
- ClinGen CA386863602
- ClinVar RCV000690141
- ClinVar RCV001112941
- Uncertain significance
- Holt-Oram syndrome; Aortic valve disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.21
- CADD 0.52
- PolyPhen-2 0.00
- SIFT 0.88
- ClinVar: Uncertain significance (Holt-Oram syndrome; Aortic valve disease 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Holt-Oram Syndrome. (PMID 20301290)