P17H (p.Pro17His) variant of PTH1R (Q03431)
P17H (p.Pro17His) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P17H (p.Pro17His) variant details
- p.Pro17His
- gnomAD 3-46883609-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.10
- CADD 21.50
- PolyPhen-2 0.19
- SIFT 0.57
- Population evidence available
- Structural context available
- Literature evidence available