P8L (p.Pro8Leu) variant of PTH1R (Q03431)
P8L (p.Pro8Leu) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- gnomAD 3-46883582-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.08
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available