C31* (p.Cys31Ter) variant of TSHR (Thyrotropin receptor)
C31* (p.Cys31Ter) in TSHR (Thyrotropin receptor) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
C31* (p.Cys31Ter) variant details
- p.Cys31Ter
- rs745922510
- ExAC rs745922510
- gnomAD rs745922510
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.552
- CADD 35.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available