F525L (p.Phe525Leu) variant of TSHR (Thyrotropin receptor)
F525L (p.Phe525Leu) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes published literature and structural context.
F525L (p.Phe525Leu) variant details
- p.Phe525Leu
- rs121908870
- ClinGen CA118230
- ClinVar RCV000006813
- TOPMed rs121908870
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- AlphaMissense 0.97
- MetaLR 0.18
- MetaSVM -0.58
- SIFT 0.05
- MutPred 0.73
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic (in CHNG1)
- UniProt: Pathogenic (in CHNG1)
- Structural context available
- Cited in: A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism. (PMID 8964822)
- Cited in: Four families with loss of function mutations of the thyrotropin receptor. (PMID 8954020)