R519C (p.Arg519Cys) variant of TSHR (Thyrotropin receptor)
R519C (p.Arg519Cys) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Hypothyroidism due to TSH receptor mutations. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data and structural context.
R519C (p.Arg519Cys) variant details
- p.Arg519Cys
- rs756016910
- ClinGen CA7294479
- NCI-TCGA Cosmic COSV5331
- NCI-TCGA Cosmic COSV5332
- Pathogenic
- not provided; Hypothyroidism due to TSH receptor mutations
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- REVEL 0.97
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.09
- CADD 28.10
- PolyPhen-2 1.00
- ClinVar: Pathogenic (not provided; Hypothyroidism due to TSH receptor mutations)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00023)
- Structural context available