K42* (p.Lys42Ter) variant of TSHR (Thyrotropin receptor)
K42* (p.Lys42Ter) in TSHR (Thyrotropin receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
K42* (p.Lys42Ter) variant details
- p.Lys42Ter
- ExAC rs766387143
- TOPMed rs766387143
- gnomAD rs766387143
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.631
- CADD 39.00
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available