C16* (p.Cys16Ter) variant of PTH1R (Q03431)
C16* (p.Cys16Ter) in PTH1R (Q03431) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
C16* (p.Cys16Ter) variant details
- p.Cys16Ter
- gnomAD 3-46883607-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.488
- CADD 35.00
- Population evidence available
- Structural context available
- Literature evidence available