D24D (p.Asp24Asp) variant of PTH (Parathyroid hormone)
D24D (p.Asp24Asp) in PTH (Parathyroid hormone) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
D24D (p.Asp24Asp) variant details
- p.Asp24Asp
- rs1847491689
- gnomAD 11-13492784-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.206
- CADD 6.39
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available