V7L (p.Val7Leu) variant of CDC73 (Parafibromin)
V7L (p.Val7Leu) in CDC73 (Parafibromin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes variant effect predictions and structural context.
V7L (p.Val7Leu) variant details
- p.Val7Leu
- Ensembl rs2103111582
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- MetaLR 0.20
- MetaSVM -0.78
- SIFT 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Structural context available