K28* (p.Lys28Ter) variant of GNAS (P63092)
K28* (p.Lys28Ter) in GNAS (P63092) 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 0.48 / 1. The record also includes population frequency data and structural context.
K28* (p.Lys28Ter) variant details
- p.Lys28Ter
- rs2516798313
- ClinGen CA409448805
- ClinVar RCV004534334
- ClinVar RCV006616897
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.483
- CADD 19.80
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available