P115L (p.Pro115Leu) variant of GNAS (P63092)
P115L (p.Pro115Leu) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of GNAS-related disorder; not provided; Pseudohypoparathyroidism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
P115L (p.Pro115Leu) variant details
- p.Pro115Leu
- rs137854539
- ClinGen CA126104
- ClinVar RCV000017322
- ClinVar RCV000017323
- Pathogenic/Likely pathogenic
- GNAS-related disorder; not provided; Pseudohypoparathyroidism
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- AlphaMissense 0.94
- MetaLR 0.91
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.66
- ClinVar: Pathogenic/Likely pathogenic (GNAS-related disorder; not provided; Pseudohypoparathyroidism)
- EBI: Pathogenic (in AHO)
- UniProt: Pathogenic (in AHO)
- Structural context available
- Cited in: Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy. (PMID 11600516)
- Cited in: Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia. (PMID 11450852)