R9R (p.Arg9Arg) variant of CDC73 (Parafibromin)
R9R (p.Arg9Arg) in CDC73 (Parafibromin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R9R (p.Arg9Arg) variant details
- p.Arg9Arg
- rs121434262
- gnomAD 1-193122225-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.515
- CADD 16.10
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. (PMID 12434154)