E32D (p.Glu32Asp) variant of NKX2-5 (Homeobox protein Nkx-2.5)
E32D (p.Glu32Asp) 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; Hypothyroidism, congeni. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
E32D (p.Glu32Asp) variant details
- p.Glu32Asp
- rs776310516
- ClinGen CA3563847
- ClinVar RCV001061180
- ClinVar RCV006556972
- Uncertain significance
- Atrial septal defect 7; Conotruncal heart malformations; Hypothyroidism, congeni
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.35
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 0.61
- ClinVar: Uncertain significance (Atrial septal defect 7; Conotruncal heart malformations; Hypothy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available