I13V (p.Ile13Val) variant of CDC73 (Parafibromin)
I13V (p.Ile13Val) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
I13V (p.Ile13Val) variant details
- p.Ile13Val
- rs762220544
- ClinGen CA1303247
- ClinVar RCV001315716
- ClinVar RCV005306394
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.27
- AlphaMissense 0.09
- MetaLR 0.30
- MetaSVM -0.81
- CADD 22.40
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Parathyroid carcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- 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)
- Cited in: CDC73-Related Disorders. (PMID 20301744)