D29D (p.Asp29Asp) variant of PTH1R (Q03431)
D29D (p.Asp29Asp) in PTH1R (Q03431) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
D29D (p.Asp29Asp) variant details
- p.Asp29Asp
- gnomAD 3-46893918-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.331
- CADD 11.80
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available