C16del (p.Cys16del) variant of PTH1R (Q03431)
C16del (p.Cys16del) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
C16del (p.Cys16del) variant details
- gnomAD 3-46883600-TCTG-T
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.582
- CADD 21.40
- Population evidence available
- Structural context available
- Literature evidence available