R56R (p.Arg56Arg) variant of PTH (Parathyroid hormone)
R56R (p.Arg56Arg) in PTH (Parathyroid hormone) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
R56R (p.Arg56Arg) variant details
- p.Arg56Arg
- gnomAD 11-13492585-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.111
- CADD 4.35
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available