L252P (p.Leu252Pro) variant of TSHR (Thyrotropin receptor)
L252P (p.Leu252Pro) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
L252P (p.Leu252Pro) variant details
- p.Leu252Pro
- UniProt VAR 021495
- Likely pathogenic
- Familial hyperthyroidism due to mutations in TSH receptor
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.94
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Familial hyperthyroidism due to mutations in TSH receptor)
- EBI: Pathogenic (in CHNG1)
- UniProt: Pathogenic (in CHNG1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Low prevalence of thyrotropin receptor mutations in a large series of subjects with sporadic and familial nonautoimmune… (PMID 15531543)
- Cited in: Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin… (PMID 10720030)