E21Q (p.Glu21Gln) variant of NKX2-5 (Homeobox protein Nkx-2.5)
E21Q (p.Glu21Gln) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
E21Q (p.Glu21Gln) variant details
- p.Glu21Gln
- rs104893904
- ClinGen CA214394
- cosmic curated COSV61298
- ClinVar RCV000009574
- Conflicting interpretations
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.78
- CADD 25.10
- PolyPhen-2 0.50
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; not provided)
- EBI: Pathogenic (in TOF and ASD7)
- UniProt: Pathogenic (in TOF and ASD7)
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Cited in: NKX2.5 mutations in patients with tetralogy of fallot. (PMID 11714651)
- Cited in: NKX2.5 mutations in patients with congenital heart disease. (PMID 14607454)