T3S (p.Thr3Ser) variant of PTH1R (Q03431)
T3S (p.Thr3Ser) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
T3S (p.Thr3Ser) variant details
- p.Thr3Ser
- gnomAD 3-46883566-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.05
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 0.68
- Population evidence available
- Structural context available
- Literature evidence available