E53G (p.Glu53Gly) variant of CDC73 (Parafibromin)
E53G (p.Glu53Gly) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
E53G (p.Glu53Gly) variant details
- p.Glu53Gly
- rs1572142551
- ClinGen CA343973085
- ClinVar RCV000811735
- Ensembl rs1572142551
- Uncertain significance
- Parathyroid carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.84
- MetaLR 0.71
- MetaSVM 0.54
- CADD 31.00
- PolyPhen-2 0.87
- SIFT 0.03
- ClinVar: Uncertain significance (Parathyroid carcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: CDC73-Related Disorders. (PMID 20301744)