C16C (p.Cys16Cys) variant of PTH1R (Q03431)
C16C (p.Cys16Cys) in PTH1R (Q03431) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
C16C (p.Cys16Cys) variant details
- p.Cys16Cys
- rs2030809966
- gnomAD 3-46883607-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.344
- CADD 14.70
- Population evidence available
- Structural context available
- Literature evidence available