R201C (p.Arg201Cys) variant of GNAS (P63092)
R201C (p.Arg201Cys) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; McCune-Albright syndrome; Pseudohypoparathyroidism type 1B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R201C (p.Arg201Cys) variant details
- p.Arg201Cys
- rs11554273
- ClinGen CA126067
- NCI-TCGA Cosmic COSV5567
- cosmic curated COSV55670
- Pathogenic/Likely pathogenic
- not provided; McCune-Albright syndrome; Pseudohypoparathyroidism type 1B
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.94
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (not provided; McCune-Albright syndrome; Pseudohypoparathyroidism)
- EBI: Pathogenic (in MAS)
- UniProt: Pathogenic (in MAS)
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gs alpha mutations. (PMID 12970318)
- Cited in: Activating mutations of the stimulatory g protein in juvenile ovarian granulosa cell tumors: a new prognostic factor? (PMID 16507630)