E154G (p.Glu154Gly) variant of NKX2-5 (Homeobox protein Nkx-2.5)
E154G (p.Glu154Gly) 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 Atrial septal defect 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
E154G (p.Glu154Gly) variant details
- p.Glu154Gly
- rs587782928
- ClinGen CA212702
- ClinVar RCV000144176
- Ensembl rs587782928
- Pathogenic
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 0.86
- SIFT 0.00
- EVE 0.89
- ClinVar: Pathogenic (Atrial septal defect 7)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available