R36H (p.Arg36His) variant of NKX2-5 (Homeobox protein Nkx-2.5)
R36H (p.Arg36His) 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 0.45 / 1. The record also includes population frequency data and structural context.
R36H (p.Arg36His) variant details
- p.Arg36His
- rs948440843
- ClinGen CA362163674
- ClinVar RCV002644261
- Uncertain significance
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.26
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (Atrial septal defect 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available