R109Q (p.Arg109Gln) variant of TSHR (Thyrotropin receptor)
R109Q (p.Arg109Gln) 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; Hypothyroidism due to TSH receptor mutations; Familial gestational. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R109Q (p.Arg109Gln) variant details
- p.Arg109Gln
- rs121908865
- ClinGen CA118215
- cosmic curated COSV53314
- ClinVar RCV000006808
- Pathogenic/Likely pathogenic
- not provided; Hypothyroidism due to TSH receptor mutations; Familial gestational
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.55
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.62
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hypothyroidism due to TSH receptor mutations; Fami)
- EBI: Pathogenic (in CHNG1)
- UniProt: Pathogenic (in CHNG1)
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available
- Cited in: Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH. (PMID 9100579)
- Cited in: Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin… (PMID 10720030)