C16Y (p.Cys16Tyr) variant of PTH1R (Q03431)
C16Y (p.Cys16Tyr) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
C16Y (p.Cys16Tyr) variant details
- p.Cys16Tyr
- gnomAD 3-46883606-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.24
- CADD 23.40
- PolyPhen-2 0.12
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available