E131K (p.Glu131Lys) variant of NKX2-5 (Homeobox protein Nkx-2.5)
E131K (p.Glu131Lys) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E131K (p.Glu131Lys) variant details
- p.Glu131Lys
- rs864321648
- ClinGen CA279909
- ClinVar RCV000203502
- Ensembl rs864321648
- Pathogenic
- Congenital heart disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.35
- CADD 21.80
- PolyPhen-2 0.27
- SIFT 0.20
- ClinVar: Pathogenic (Congenital heart disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)