G9C (p.Gly9Cys) variant of PTH1R (Q03431)
G9C (p.Gly9Cys) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G9C (p.Gly9Cys) variant details
- p.Gly9Cys
- gnomAD 3-46883584-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.07
- CADD 23.40
- PolyPhen-2 0.28
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available