R165C (p.Arg165Cys) variant of GNAS (P63092)
R165C (p.Arg165Cys) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pseudohypoparathyroidism type I A; not provided; Hereditary spastic paraplegia 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R165C (p.Arg165Cys) variant details
- p.Arg165Cys
- rs137854532
- ClinGen CA126062
- NCI-TCGA Cosmic COSV5568
- cosmic curated COSV55688
- Pathogenic
- Pseudohypoparathyroidism type I A; not provided; Hereditary spastic paraplegia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.89
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Pseudohypoparathyroidism type I A; not provided; Hereditary spas)
- EBI: Pathogenic (in AHO)
- UniProt: Pathogenic (in AHO)
- Population evidence available
- 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)