P3P (p.Pro3Pro) variant of PTH (Parathyroid hormone)
P3P (p.Pro3Pro) in PTH (Parathyroid hormone) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
P3P (p.Pro3Pro) variant details
- p.Pro3Pro
- rs1006011428
- gnomAD 11-13492847-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.682
- CADD 11.80
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available