V18E (p.Val18Glu) variant of PTH1R (Q03431)
V18E (p.Val18Glu) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
V18E (p.Val18Glu) variant details
- p.Val18Glu
- gnomAD 3-46883612-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.15
- CADD 24.30
- PolyPhen-2 0.08
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available