T178M (p.Thr178Met) variant of NKX2-5 (Homeobox protein Nkx-2.5)
T178M (p.Thr178Met) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Atrial septal defect 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
T178M (p.Thr178Met) variant details
- p.Thr178Met
- rs104893900
- ClinGen CA212653
- ClinVar RCV000009568
- ClinVar RCV006456608
- Pathogenic
- not provided; Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- REVEL 0.98
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Atrial septal defect 7)
- EBI: Pathogenic (in ASD7)
- UniProt: Pathogenic (in ASD7)
- Population evidence available
- Structural context available
- Cited in: Familial atrial septal defect with prolonged atrioventricular conduction. (PMID 1260978)
- Cited in: Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease. (PMID 15342699)