L56* (p.Leu56Ter) variant of FAN1 (Fanconi-associated nuclease 1)
L56* (p.Leu56Ter) in FAN1 (Fanconi-associated nuclease 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
L56* (p.Leu56Ter) variant details
- p.Leu56Ter
- gnomAD rs1170312334
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.709
- CADD 37.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available