G74E (p.Gly74Glu) variant of NKX2-1 (Homeobox protein Nkx-2.1)
G74E (p.Gly74Glu) 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 0.40 / 1. The record also includes structural context.
G74E (p.Gly74Glu) variant details
- p.Gly74Glu
- rs761461360
- ClinGen CA389460853
- ClinVar RCV003442643
- cosmic curated COSV61387
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- AlphaMissense 0.15
- MetaLR 0.36
- MetaSVM -0.51
- PolyPhen-2 0.37
- SIFT 0.28
- EVE 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available