A7S (p.Ala7Ser) variant of PTH1R (Q03431)
A7S (p.Ala7Ser) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A7S (p.Ala7Ser) variant details
- p.Ala7Ser
- gnomAD 3-46883578-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.06
- CADD 20.00
- PolyPhen-2 0.00
- SIFT 0.44
- Population evidence available
- Structural context available
- Literature evidence available