R9Q (p.Arg9Gln) variant of CDC73 (Parafibromin)
R9Q (p.Arg9Gln) in CDC73 (Parafibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Parathyroid carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R9Q (p.Arg9Gln) variant details
- p.Arg9Gln
- rs2103111603
- ClinGen CA343972772
- cosmic curated COSV10970
- ClinVar RCV001901553
- Uncertain significance
- Parathyroid carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.80
- AlphaMissense 1.00
- MetaLR 0.83
- MetaSVM 0.84
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Parathyroid carcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: CDC73-Related Disorders. (PMID 20301744)