E392K (p.Glu392Lys) variant of GNAS (P63092)
E392K (p.Glu392Lys) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Pseudohypoparathyroidism type I A; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
E392K (p.Glu392Lys) variant details
- p.Glu392Lys
- rs397514456
- ClinGen CA128615
- NCI-TCGA Cosmic COSV5568
- cosmic curated COSV55681
- Pathogenic/Likely pathogenic
- Pseudohypoparathyroidism type I A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- AlphaMissense 0.97
- MetaLR 0.72
- MetaSVM 0.54
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.68
- ClinVar: Pathogenic/Likely pathogenic (Pseudohypoparathyroidism type I A; not provided)
- EBI: Pathogenic (in PHP1C)
- UniProt: Pathogenic (in PHP1C)
- Structural context available
- Cited in: Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new… (PMID 21488135)
- Cited in: Disorders of GNAS Inactivation. (PMID 29072892)