A89D (p.Ala89Asp) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A89D (p.Ala89Asp) 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 0.48 / 1. The record also includes structural context.
A89D (p.Ala89Asp) variant details
- p.Ala89Asp
- rs2113905976
- ClinGen CA362163364
- ClinVar RCV001865079
- Ensembl rs2113905976
- Uncertain significance
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- AlphaMissense 0.22
- MetaLR 0.67
- MetaSVM -0.12
- PolyPhen-2 0.08
- SIFT 0.43
- EVE 0.12
- ClinVar: Uncertain significance (Atrial septal defect 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available