L388R (p.Leu388Arg) variant of GNAS (P63092)
L388R (p.Leu388Arg) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pseudohypoparathyroidism type 1C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
L388R (p.Leu388Arg) variant details
- p.Leu388Arg
- rs397514457
- ClinGen CA128613
- ClinVar RCV000022598
- UniProt VAR 066387
- Pathogenic
- Pseudohypoparathyroidism type 1C
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- AlphaMissense 0.98
- MetaLR 0.85
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic (Pseudohypoparathyroidism type 1C)
- 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)