C47* (p.Cys47Ter) variant of FAN1 (Fanconi-associated nuclease 1)
C47* (p.Cys47Ter) in FAN1 (Fanconi-associated nuclease 1) 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 0.49 / 1. The record also includes population frequency data and structural context.
C47* (p.Cys47Ter) variant details
- p.Cys47Ter
- rs144469584
- ClinGen CA7449987
- ClinVar RCV003421140
- ClinVar RCV005012942
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.486
- CADD 32.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available