C29* (p.Cys29Ter) variant of TSHR (Thyrotropin receptor)
C29* (p.Cys29Ter) in TSHR (Thyrotropin receptor) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
C29* (p.Cys29Ter) variant details
- p.Cys29Ter
- rs777166186
- ClinGen CA390770595
- ClinVar RCV003731096
- ExAC rs777166186
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available