D30D (p.Asp30Asp) variant of PTH1R (Q03431)
D30D (p.Asp30Asp) in PTH1R (Q03431) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
D30D (p.Asp30Asp) variant details
- p.Asp30Asp
- rs781370785
- gnomAD 3-46893921-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.298
- CADD 13.80
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available
- Literature evidence available