A39E (p.Ala39Glu) variant of NKX2-1 (Homeobox protein Nkx-2.1)
A39E (p.Ala39Glu) in NKX2-1 (Homeobox protein Nkx-2.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A39E (p.Ala39Glu) variant details
- p.Ala39Glu
- rs1004953614
- ClinGen CA258878650
- ClinVar RCV003044295
- TOPMed rs1004953614
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- AlphaMissense 0.17
- MetaLR 0.26
- MetaSVM -0.54
- PolyPhen-2 0.81
- SIFT 0.09
- EVE 0.37
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available