Q22E (p.Gln22Glu) variant of NKX2-5 (Homeobox protein Nkx-2.5)
Q22E (p.Gln22Glu) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Atrial septal defect 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
Q22E (p.Gln22Glu) variant details
- p.Gln22Glu
- rs764389026
- ClinGen CA3563855
- ClinVar RCV003620428
- ClinVar RCV004374323
- Uncertain significance
- Cardiovascular phenotype; Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.48
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype; Atrial septal defect 7)
- EBI: Variant of uncertain significance (in ASD7 and TOF)
- UniProt: Uncertain significance (in ASD7 and TOF)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available