R43R (p.Arg43Arg) variant of PTH1R (Q03431)
R43R (p.Arg43Arg) in PTH1R (Q03431) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
R43R (p.Arg43Arg) variant details
- p.Arg43Arg
- rs771352880
- gnomAD 3-46893960-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.104
- CADD 3.31
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available
- Literature evidence available