Q181H (p.Gln181His) variant of NKX2-5 (Homeobox protein Nkx-2.5)
Q181H (p.Gln181His) 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 Atrial septal defect 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes population frequency data and structural context.
Q181H (p.Gln181His) variant details
- p.Gln181His
- rs72554028
- ClinGen CA214180
- ClinVar RCV000588165
- 1000Genomes rs72554028
- Pathogenic
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.944
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Pathogenic (Atrial septal defect 7)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available