V18A (p.Val18Ala) variant of PTH1R (Q03431)
V18A (p.Val18Ala) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
V18A (p.Val18Ala) variant details
- p.Val18Ala
- gnomAD 3-46883612-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.11
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available