T13K (p.Thr13Lys) variant of TBX5 (T-box transcription factor TBX5)
T13K (p.Thr13Lys) 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 Cardiovascular phenotype; Aortic valve disease 2; Holt-Oram syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
T13K (p.Thr13Lys) variant details
- p.Thr13Lys
- rs763125466
- ClinGen CA6809739
- ClinVar RCV000617189
- ClinVar RCV002483716
- Uncertain significance
- Cardiovascular phenotype; Aortic valve disease 2; Holt-Oram syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.44
- CADD 23.30
- PolyPhen-2 0.05
- SIFT 0.37
- ClinVar: Uncertain significance (Cardiovascular phenotype; Aortic valve disease 2; Holt-Oram synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Cited in: Holt-Oram Syndrome. (PMID 20301290)