D27D (p.Asp27Asp) variant of PTH1R (Q03431)
D27D (p.Asp27Asp) in PTH1R (Q03431) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
D27D (p.Asp27Asp) variant details
- p.Asp27Asp
- rs1176120255
- gnomAD 3-46893912-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.137
- CADD 7.89
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available