D299G (p.Asp299Gly) variant of NKX2-5 (Homeobox protein Nkx-2.5)
D299G (p.Asp299Gly) 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 Atrioventricular septal defect, somatic; Atrial septal defect 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
D299G (p.Asp299Gly) variant details
- p.Asp299Gly
- rs137852683
- ClinGen CA120057
- ClinVar RCV000009579
- ClinVar RCV000009580
- Pathogenic
- Atrioventricular septal defect, somatic; Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- AlphaMissense 0.56
- MetaLR 0.53
- MetaSVM -0.22
- PolyPhen-2 0.05
- SIFT 0.28
- MutPred 0.36
- ClinVar: Pathogenic (Atrioventricular septal defect, somatic; Atrial septal defect 7)
- EBI: Pathogenic (in ASD7)
- UniProt: Pathogenic (in ASD7)
- Structural context available
- Cited in: Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease. (PMID 15342699)
- Cited in: Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. (PMID 10587520)