R5R (p.Arg5Arg) variant of PTH1R (Q03431)
R5R (p.Arg5Arg) in PTH1R (Q03431) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R5R (p.Arg5Arg) variant details
- p.Arg5Arg
- rs1250201262
- gnomAD 3-46883572-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.495
- CADD 15.20
- Population evidence available
- Structural context available
- Literature evidence available