L99P (p.Leu99Pro) variant of GNAS (P63092)
L99P (p.Leu99Pro) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pseudohypoparathyroidism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
L99P (p.Leu99Pro) variant details
- p.Leu99Pro
- rs137854531
- ClinGen CA126057
- ClinVar RCV000017285
- UniProt VAR 003439
- Pathogenic
- Pseudohypoparathyroidism
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic (Pseudohypoparathyroidism)
- EBI: Pathogenic (in AHO)
- UniProt: Pathogenic (in AHO)
- Structural context available
- Cited in: Heterogeneous mutations in the gene encoding the alpha-subunit of the stimulatory G protein of adenylyl cyclase in… (PMID 8388883)
- Cited in: Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia. (PMID 11450852)