C390W (p.Cys390Trp) variant of TSHR (Thyrotropin receptor)
C390W (p.Cys390Trp) 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 not provided; Familial gestational hyperthyroidism; Familial hyperthyroidism due. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
C390W (p.Cys390Trp) variant details
- p.Cys390Trp
- rs121908871
- ClinGen CA118233
- ClinVar RCV000006814
- ClinVar RCV002490330
- Pathogenic/Likely pathogenic
- not provided; Familial gestational hyperthyroidism; Familial hyperthyroidism due
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.84
- CADD 22.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Familial gestational hyperthyroidism; Familial hyp)
- EBI: Pathogenic (in CHNG1)
- UniProt: Pathogenic (in CHNG1)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism. (PMID 8964822)
- Cited in: Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism. (PMID 9329388)