C600R (p.Cys600Arg) variant of TSHR (Thyrotropin receptor)
C600R (p.Cys600Arg) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
C600R (p.Cys600Arg) variant details
- p.Cys600Arg
- rs121908884
- ClinGen CA118272
- ClinVar RCV000006829
- Ensembl rs121908884
- Pathogenic
- Hypothyroidism due to TSH receptor mutations
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- AlphaMissense 0.99
- MetaLR 0.39
- MetaSVM 0.15
- SIFT 0.00
- MutPred 0.82
- 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)