R528C (p.Arg528Cys) variant of TSHR (Thyrotropin receptor)
R528C (p.Arg528Cys) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypothyroidism due to TSH receptor mutations. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R528C (p.Arg528Cys) variant details
- p.Arg528Cys
- rs765367813
- ClinGen CA7294491
- ClinVar RCV003479551
- ExAC rs765367813
- Likely pathogenic
- Hypothyroidism due to TSH receptor mutations
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.52
- CADD 27.80
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Likely pathogenic (Hypothyroidism due to TSH receptor mutations)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available