A89P (p.Ala89Pro) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A89P (p.Ala89Pro) 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 0.46 / 1. The record also includes structural context.
A89P (p.Ala89Pro) variant details
- p.Ala89Pro
- rs1761432750
- ClinGen CA362163366
- ClinVar RCV001344340
- TOPMed rs1761432750
- Uncertain significance
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- AlphaMissense 0.08
- MetaLR 0.61
- MetaSVM -0.29
- PolyPhen-2 0.20
- SIFT 0.49
- EVE 0.11
- ClinVar: Uncertain significance (Atrial septal defect 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available