D27E (p.Asp27Glu) variant of PTH1R (Q03431)
D27E (p.Asp27Glu) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
D27E (p.Asp27Glu) variant details
- p.Asp27Glu
- gnomAD 3-46893912-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.12
- CADD 18.00
- PolyPhen-2 0.30
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available