C44* (p.Cys44Ter) variant of FAN1 (Fanconi-associated nuclease 1)
C44* (p.Cys44Ter) in FAN1 (Fanconi-associated nuclease 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
C44* (p.Cys44Ter) variant details
- p.Cys44Ter
- ExAC rs772357075
- TOPMed rs772357075
- gnomAD rs772357075
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.397
- CADD 35.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available