R189Q (p.Arg189Gln) variant of NKX2-5 (Homeobox protein Nkx-2.5)
R189Q (p.Arg189Gln) 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 Atrial septal defect 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
R189Q (p.Arg189Gln) variant details
- p.Arg189Gln
- rs786205824
- ClinGen CA362161594
- ClinVar RCV000700821
- gnomAD rs786205824
- Uncertain significance
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.91
- AlphaMissense 0.99
- MetaLR 0.92
- MetaSVM 1.04
- CADD 27.70
- PolyPhen-2 0.88
- ClinVar: Uncertain significance (Atrial septal defect 7)
- EBI: Variant of uncertain significance (in ASD7)
- UniProt: Uncertain significance (in ASD7)
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available