G49A (p.Gly49Ala) variant of CDC73 (Parafibromin)
G49A (p.Gly49Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
G49A (p.Gly49Ala) variant details
- p.Gly49Ala
- rs2103113902
- ClinGen CA343973059
- ClinVar RCV004517610
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- AlphaMissense 0.77
- MetaLR 0.78
- MetaSVM 0.72
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.25
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)