P8T (p.Pro8Thr) variant of PTH1R (Q03431)
P8T (p.Pro8Thr) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P8T (p.Pro8Thr) variant details
- p.Pro8Thr
- gnomAD 3-46883581-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.03
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available