A4D (p.Ala4Asp) variant of PTH1R (Q03431)
A4D (p.Ala4Asp) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A4D (p.Ala4Asp) variant details
- p.Ala4Asp
- gnomAD 3-46883570-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.08
- CADD 20.90
- PolyPhen-2 0.16
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available