A28T (p.Ala28Thr) variant of PTH1R (Q03431)
A28T (p.Ala28Thr) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A28T (p.Ala28Thr) variant details
- p.Ala28Thr
- gnomAD 3-46893913-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.05
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available