R519H (p.Arg519His) variant of TSHR (Thyrotropin receptor)
R519H (p.Arg519His) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hypothyroidism due to TSH receptor mutations; Familial gestational. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
R519H (p.Arg519His) variant details
- p.Arg519His
- rs780018604
- ClinGen CA7294480
- cosmic curated COSV53315
- ClinVar RCV001118351
- Pathogenic/Likely pathogenic
- not provided; Hypothyroidism due to TSH receptor mutations; Familial gestational
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.95
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hypothyroidism due to TSH receptor mutations; Fami)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available