Q50E (p.Gln50Glu) variant of CDC73 (Parafibromin)
Q50E (p.Gln50Glu) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
Q50E (p.Gln50Glu) variant details
- p.Gln50Glu
- rs2103113904
- ClinGen CA343973062
- ClinVar RCV001950405
- Ensembl rs2103113904
- Uncertain significance
- Parathyroid carcinoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- AlphaMissense 0.23
- MetaLR 0.40
- MetaSVM -0.49
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.13
- ClinVar: Uncertain significance (Parathyroid carcinoma; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: CDC73-Related Disorders. (PMID 20301744)