P8S (p.Pro8Ser) variant of PTH1R (Q03431)
P8S (p.Pro8Ser) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P8S (p.Pro8Ser) variant details
- p.Pro8Ser
- gnomAD 3-46883581-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.03
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available