G2V (p.Gly2Val) variant of PTH1R (Q03431)
G2V (p.Gly2Val) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G2V (p.Gly2Val) variant details
- p.Gly2Val
- gnomAD 3-46883564-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.20
- CADD 26.80
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available