V58M (p.Val58Met) variant of NKX2-1 (Homeobox protein Nkx-2.1)
V58M (p.Val58Met) in NKX2-1 (Homeobox protein Nkx-2.1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes structural context.
V58M (p.Val58Met) variant details
- p.Val58Met
- rs1332287438
- gnomAD rs1332287438
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- AlphaMissense 0.10
- MetaLR 0.12
- MetaSVM -1.03
- PolyPhen-2 0.01
- SIFT 0.30
- EVE 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available