A83G (p.Ala83Gly) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A83G (p.Ala83Gly) 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; Conotruncal heart malformations; Tetralogy of Fallot. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A83G (p.Ala83Gly) variant details
- p.Ala83Gly
- rs1182777346
- ClinGen CA362163399
- ClinVar RCV001322934
- ClinVar RCV002431920
- Uncertain significance
- Atrial septal defect 7; Conotruncal heart malformations; Tetralogy of Fallot
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.17
- CADD 15.90
- PolyPhen-2 0.03
- SIFT 0.50
- ClinVar: Uncertain significance (Atrial septal defect 7; Conotruncal heart malformations; Tetralo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available