A22S (p.Ala22Ser) variant of PTH1R (Q03431)
A22S (p.Ala22Ser) 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.
A22S (p.Ala22Ser) variant details
- p.Ala22Ser
- gnomAD 3-46883623-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.06
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available