V58L (p.Val58Leu) variant of NKX2-1 (Homeobox protein Nkx-2.1)
V58L (p.Val58Leu) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
V58L (p.Val58Leu) variant details
- p.Val58Leu
- rs1332287438
- ClinGen CA389461048
- ClinVar RCV002027640
- gnomAD rs1332287438
- Uncertain significance
- Inborn genetic diseases
- 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
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available