C16F (p.Cys16Phe) variant of PTH1R (Q03431)
C16F (p.Cys16Phe) 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.
C16F (p.Cys16Phe) variant details
- p.Cys16Phe
- gnomAD 3-46883606-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.20
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available