E48D (p.Glu48Asp) variant of CDC73 (Parafibromin)
E48D (p.Glu48Asp) 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 0.35 / 1. The record also includes published literature and structural context.
E48D (p.Glu48Asp) variant details
- p.Glu48Asp
- rs2103113897
- ClinGen CA343973054
- ClinVar RCV001882197
- Ensembl rs2103113897
- Uncertain significance
- Parathyroid carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- AlphaMissense 0.10
- MetaLR 0.28
- MetaSVM -0.78
- PolyPhen-2 0.01
- SIFT 0.46
- EVE 0.05
- ClinVar: Uncertain significance (Parathyroid carcinoma)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: CDC73-Related Disorders. (PMID 20301744)