A22E (p.Ala22Glu) variant of PTH1R (Q03431)
A22E (p.Ala22Glu) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A22E (p.Ala22Glu) variant details
- p.Ala22Glu
- gnomAD 3-46883624-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.14
- CADD 23.70
- PolyPhen-2 0.04
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available