G132R (p.Gly132Arg) variant of TSHR (Thyrotropin receptor)
G132R (p.Gly132Arg) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of TSHR-related disorder; Familial gestational hyperthyroidism; Familial hyperthyro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
G132R (p.Gly132Arg) variant details
- p.Gly132Arg
- rs760874290
- ClinGen CA7294130
- ClinVar RCV000489665
- ClinVar RCV003153557
- Likely pathogenic
- TSHR-related disorder; Familial gestational hyperthyroidism; Familial hyperthyro
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.70
- CADD 24.60
- PolyPhen-2 0.34
- SIFT 0.15
- ClinVar: Likely pathogenic (TSHR-related disorder; Familial gestational hyperthyroidism; Fam)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.00096)
- Structural context available
- Cited in: Screening for ovarian cancer: U.S. Preventive Services Task Force reaffirmation recommendation statement. (PMID 22964825)
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)