W43R (p.Trp43Arg) variant of CDC73 (Parafibromin)
W43R (p.Trp43Arg) 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.
W43R (p.Trp43Arg) variant details
- p.Trp43Arg
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10081
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- MetaLR 0.48
- MetaSVM -0.29
- SIFT 0.04
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Structural context available