G2W (p.Gly2Trp) variant of PTH1R (Q03431)
G2W (p.Gly2Trp) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G2W (p.Gly2Trp) variant details
- p.Gly2Trp
- gnomAD 3-46883563-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.19
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available