C16R (p.Cys16Arg) variant of PTH1R (Q03431)
C16R (p.Cys16Arg) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
C16R (p.Cys16Arg) variant details
- p.Cys16Arg
- gnomAD 3-46883605-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.34
- CADD 23.50
- PolyPhen-2 0.27
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available