R450H (p.Arg450His) variant of TSHR (Thyrotropin receptor)
R450H (p.Arg450His) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial gestational hyperthyroidism; Hypothyroidism due to TSH receptor mutatio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R450H (p.Arg450His) variant details
- p.Arg450His
- rs189261858
- ClinGen CA7294442
- cosmic curated COSV99991
- ClinVar RCV000273881
- Pathogenic/Likely pathogenic
- Familial gestational hyperthyroidism; Hypothyroidism due to TSH receptor mutatio
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.94
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Familial gestational hyperthyroidism; Hypothyroidism due to TSH)
- EBI: Pathogenic (in CHNG1)
- UniProt: Pathogenic (in CHNG1)
- Most common in the HGDP:YAKUT population (allele frequency 0.02)
- Structural context available
- Cited in: Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to… (PMID 11442002)
- Cited in: acmg act sheets and algorithms (PMID 21938795)