I18T (p.Ile18Thr) variant of CDC73 (Parafibromin)
I18T (p.Ile18Thr) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
I18T (p.Ile18Thr) variant details
- p.Ile18Thr
- rs2103111665
- ClinGen CA343972839
- ClinVar RCV003607962
- Uncertain significance
- Parathyroid carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.70
- MetaLR 0.66
- MetaSVM 0.34
- CADD 26.30
- PolyPhen-2 0.46
- SIFT 0.00
- 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)