S21P (p.Ser21Pro) variant of PTH1R (Q03431)
S21P (p.Ser21Pro) 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.
S21P (p.Ser21Pro) variant details
- p.Ser21Pro
- gnomAD 3-46883620-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.17
- CADD 23.10
- PolyPhen-2 0.06
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available