L467P (p.Leu467Pro) variant of TSHR (Thyrotropin receptor)
L467P (p.Leu467Pro) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypothyroidism due to TSH receptor mutations. The record also includes published literature and structural context.
L467P (p.Leu467Pro) variant details
- p.Leu467Pro
- rs121908885
- ClinGen CA118275
- cosmic curated COSV53320
- ClinVar RCV000006830
- Pathogenic
- Hypothyroidism due to TSH receptor mutations
- Missense
- ClinVar: Pathogenic (Hypothyroidism due to TSH receptor mutations)
- EBI: Pathogenic (in CHNG1)
- UniProt: Pathogenic (in CHNG1)
- Structural context available
- Cited in: Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism. (PMID 12050212)
- Cited in: Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin… (PMID 10720030)