S3* (p.Ser3Ter) variant of FAN1 (Fanconi-associated nuclease 1)
S3* (p.Ser3Ter) in FAN1 (Fanconi-associated nuclease 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
S3* (p.Ser3Ter) variant details
- p.Ser3Ter
- ExAC rs745548375
- TOPMed rs745548375
- gnomAD rs745548375
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.733
- CADD 35.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available