L56L (p.Leu56Leu) variant of FAN1 (Fanconi-associated nuclease 1)
L56L (p.Leu56Leu) in FAN1 (Fanconi-associated nuclease 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L56L (p.Leu56Leu) variant details
- p.Leu56Leu
- rs1427301217
- gnomAD 15-30904829-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.507
- CADD 9.03
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available