Q77* (p.Gln77Ter) variant of NKX2-1 (Homeobox protein Nkx-2.1)
Q77* (p.Gln77Ter) in NKX2-1 (Homeobox protein Nkx-2.1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes structural context.
Q77* (p.Gln77Ter) variant details
- p.Gln77Ter
- rs1052071927
- ClinGen CA389460831
- ClinVar RCV003322243
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.487
- AlphaMissense 0.39
- MetaLR 0.41
- MetaSVM -0.26
- PolyPhen-2 0.78
- SIFT 0.01
- EVE 0.39
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available