G2E (p.Gly2Glu) variant of PTH1R (Q03431)
G2E (p.Gly2Glu) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
G2E (p.Gly2Glu) variant details
- p.Gly2Glu
- gnomAD 3-46883564-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.17
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available