A28A (p.Ala28Ala) variant of PTH1R (Q03431)
A28A (p.Ala28Ala) in PTH1R (Q03431) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A28A (p.Ala28Ala) variant details
- p.Ala28Ala
- rs1291292658
- gnomAD 3-46893915-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.12
- CADD 5.62
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available