F631L (p.Phe631Leu) variant of TSHR (Thyrotropin receptor)
F631L (p.Phe631Leu) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Thyroid adenoma, hyperfunctioning, somatic; Familial hyperthyroidism due to muta. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
F631L (p.Phe631Leu) variant details
- p.Phe631Leu
- rs121908861
- cosmic curated COSV53319
- ClinGen CA118200
- Pathogenic
- Thyroid adenoma, hyperfunctioning, somatic; Familial hyperthyroidism due to muta
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- AlphaMissense 0.92
- MetaLR 0.22
- MetaSVM -0.50
- SIFT 0.00
- MutPred 0.83
- ClinVar: Pathogenic (Thyroid adenoma, hyperfunctioning, somatic; Familial hyperthyroi)
- EBI: Pathogenic (in HTNA)
- UniProt: Pathogenic (in HTNA)
- Structural context available
- Cited in: Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene. (PMID 7800007)
- Cited in: Somatic mutations in the thyrotropin receptor gene and not in the Gs alpha protein gene in 31 toxic thyroid nodules. (PMID 9360556)