G28A (p.Gly28Ala) variant of CDC73 (Parafibromin)
G28A (p.Gly28Ala) 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 0.74 / 1. The record also includes published literature and structural context.
G28A (p.Gly28Ala) variant details
- p.Gly28Ala
- rs1054465259
- ClinGen CA34407940
- ClinVar RCV000638116
- Ensembl rs1054465259
- Uncertain significance
- Parathyroid carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- AlphaMissense 0.90
- MetaLR 0.69
- MetaSVM 0.58
- PolyPhen-2 0.82
- SIFT 0.00
- EVE 0.71
- ClinVar: Uncertain significance (Parathyroid carcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: CDC73-Related Disorders. (PMID 20301744)