L56K (p.Leu56Lys) variant of FAN1 (Fanconi-associated nuclease 1)
L56K (p.Leu56Lys) in FAN1 (Fanconi-associated nuclease 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L56K (p.Leu56Lys) variant details
- p.Leu56Lys
- rs1019748777
- gnomAD 15-30904828-CTT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.42
- CADD 28.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available