A61G (p.Ala61Gly) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A61G (p.Ala61Gly) 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 Congenital heart disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
A61G (p.Ala61Gly) variant details
- p.Ala61Gly
- rs864321650
- ClinGen CA279938
- ClinVar RCV000203543
- TOPMed rs864321650
- Pathogenic
- Congenital heart disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- AlphaMissense 0.08
- MetaLR 0.64
- MetaSVM -0.36
- PolyPhen-2 0.06
- SIFT 0.33
- EVE 0.10
- ClinVar: Pathogenic (Congenital heart disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American College of… (PMID 19038677)
- Cited in: 2018 AHA/ACC Guideline for the Management of Adults With Congenital Heart Disease: A Report of the American College of… (PMID 30121239)