L629F (p.Leu629Phe) variant of TSHR (Thyrotropin receptor)
L629F (p.Leu629Phe) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial hyperthyroidism due to mutations in TSH receptor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
L629F (p.Leu629Phe) variant details
- p.Leu629Phe
- rs121908877
- cosmic curated COSV53318
- ClinGen CA118251
- cosmic curated COSV53313
- Likely pathogenic
- Familial hyperthyroidism due to mutations in TSH receptor
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- AlphaMissense 0.94
- MetaLR 0.35
- MetaSVM 0.11
- SIFT 0.00
- MutPred 0.79
- ClinVar: Likely pathogenic (Familial hyperthyroidism due to mutations in TSH receptor)
- EBI: Pathogenic (in HTNA)
- UniProt: Pathogenic (in HTNA)
- Structural context available
- Cited in: Diversity and prevalence of somatic mutations in the thyrotropin receptor and Gs alpha genes as a cause of toxic… (PMID 9253356)
- Cited in: Identification of a new thyrotropin receptor germline mutation (Leu629Phe) in a family with neonatal onset of autosomal… (PMID 9398746)