D5N (p.Asp5Asn) variant of TBX5 (T-box transcription factor TBX5)
D5N (p.Asp5Asn) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
D5N (p.Asp5Asn) variant details
- p.Asp5Asn
- rs886048999
- ClinGen CA10632086
- ClinVar RCV000349562
- ClinVar RCV004668891
- Uncertain significance
- Holt-Oram syndrome; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- AlphaMissense 0.12
- MetaLR 0.47
- MetaSVM 0.12
- PolyPhen-2 0.18
- SIFT 0.04
- MutPred 0.41
- ClinVar: Uncertain significance (Holt-Oram syndrome; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Holt-Oram Syndrome. (PMID 20301290)