W32* (p.Trp32Ter) variant of DICER1 (Endoribonuclease Dicer)
W32* (p.Trp32Ter) in DICER1 (Endoribonuclease Dicer) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
W32* (p.Trp32Ter) variant details
- p.Trp32Ter
- rs1894119538
- ClinGen CA390890486
- ClinVar RCV001200943
- NCI-TCGA TCGA novel
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.854
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: DICER1-Related Tumor Predisposition. (PMID 24761742)