G28V (p.Gly28Val) variant of NKX2-1 (Homeobox protein Nkx-2.1)
G28V (p.Gly28Val) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G28V (p.Gly28Val) variant details
- p.Gly28Val
- rs1050246022
- ClinGen CA258878685
- ClinVar RCV001915119
- TOPMed rs1050246022
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- AlphaMissense 0.22
- MetaLR 0.35
- MetaSVM -0.44
- PolyPhen-2 0.27
- SIFT 0.05
- EVE 0.41
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available