T56I (p.Thr56Ile) variant of CDC73 (Parafibromin)
T56I (p.Thr56Ile) in CDC73 (Parafibromin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Parathyroid carcinoma; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
T56I (p.Thr56Ile) variant details
- p.Thr56Ile
- gnomAD rs1454615241
- Uncertain significance
- Parathyroid carcinoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.85
- MetaLR 0.84
- MetaSVM 0.86
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Parathyroid carcinoma; Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available