C41S (p.Cys41Ser) variant of TSHR (Thyrotropin receptor)
C41S (p.Cys41Ser) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Familial hyperthyroidism due to mutations in TSH re. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
C41S (p.Cys41Ser) variant details
- p.Cys41Ser
- rs121908869
- ClinGen CA118227
- ClinVar RCV000006812
- ClinVar RCV000415318
- Conflicting interpretations
- not specified; not provided; Familial hyperthyroidism due to mutations in TSH re
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.74
- CADD 24.80
- PolyPhen-2 0.98
- SIFT 0.24
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Familial hyperthyroidism due to mut)
- EBI: Pathogenic (in CHNG1)
- UniProt: Pathogenic (in CHNG1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism. (PMID 12050212)
- Cited in: A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism. (PMID 8964822)