Q90P (p.Gln90Pro) variant of TSHR (Thyrotropin receptor)
Q90P (p.Gln90Pro) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hyperthyroidism due to mutations in TSH receptor; Familial gestational. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
Q90P (p.Gln90Pro) variant details
- p.Gln90Pro
- ExAC rs768151924
- TOPMed rs768151924
- gnomAD rs768151924
- Uncertain significance
- Familial hyperthyroidism due to mutations in TSH receptor; Familial gestational
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.82
- CADD 24.50
- PolyPhen-2 0.50
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available