C15Y (p.Cys15Tyr) variant of PTH1R (Q03431)
C15Y (p.Cys15Tyr) 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 and structural context.
C15Y (p.Cys15Tyr) variant details
- p.Cys15Tyr
- cosmic curated COSV99067
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.27
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.05
- Population evidence available
- Structural context available