Q22P (p.Gln22Pro) variant of NKX2-5 (Homeobox protein Nkx-2.5)
Q22P (p.Gln22Pro) 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 not provided; Atrial septal defect 7; Ventricular septal defect 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
Q22P (p.Gln22Pro) variant details
- p.Gln22Pro
- rs201442000
- ClinGen CA132260566
- ClinVar RCV000542359
- ClinVar RCV000786392
- Uncertain significance
- not provided; Atrial septal defect 7; Ventricular septal defect 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.82
- CADD 24.00
- PolyPhen-2 0.20
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Atrial septal defect 7; Ventricular septal defect)
- EBI: Pathogenic (in ASD7 and TOF)
- UniProt: Pathogenic (in ASD7 and TOF)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: NKX2.5 mutations in patients with congenital heart disease. (PMID 14607454)
- Cited in: Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. (PMID 15810002)