A76E (p.Ala76Glu) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A76E (p.Ala76Glu) 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 0.38 / 1. The record also includes structural context.
A76E (p.Ala76Glu) variant details
- p.Ala76Glu
- rs1761435522
- ClinGen CA362163440
- ClinVar RCV002570997
- Uncertain significance
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- AlphaMissense 0.08
- MetaLR 0.40
- MetaSVM -0.63
- PolyPhen-2 0.01
- SIFT 0.42
- EVE 0.09
- ClinVar: Uncertain significance (Atrial septal defect 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available