D27G (p.Asp27Gly) variant of PTH1R (Q03431)
D27G (p.Asp27Gly) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
D27G (p.Asp27Gly) variant details
- p.Asp27Gly
- ExAC rs79218323
- gnomAD rs79218323
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.28
- CADD 32.00
- PolyPhen-2 0.89
- SIFT 0.01
- Population evidence available
- Structural context available