Q50R (p.Gln50Arg) variant of CDC73 (Parafibromin)
Q50R (p.Gln50Arg) in CDC73 (Parafibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Parathyroid carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
Q50R (p.Gln50Arg) variant details
- p.Gln50Arg
- rs1276311364
- ClinGen CA343973064
- ClinVar RCV000800881
- Ensembl rs1276311364
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- AlphaMissense 0.36
- MetaLR 0.37
- MetaSVM -0.70
- PolyPhen-2 0.00
- SIFT 0.56
- EVE 0.12
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Parathyroid carcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: CDC73-Related Disorders. (PMID 20301744)