I13M (p.Ile13Met) variant of CDC73 (Parafibromin)
I13M (p.Ile13Met) 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; Parathyroid carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
I13M (p.Ile13Met) variant details
- p.Ile13Met
- rs2103111637
- ClinGen CA343972804
- ClinVar RCV002908097
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.24
- MetaLR 0.43
- MetaSVM -0.38
- CADD 23.00
- PolyPhen-2 0.03
- SIFT 0.05
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Parathyroid carcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: CDC73-Related Disorders. (PMID 20301744)