S20G (p.Ser20Gly) variant of PTH1R (Q03431)
S20G (p.Ser20Gly) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
S20G (p.Ser20Gly) variant details
- p.Ser20Gly
- gnomAD 3-46883617-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.04
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available