L17L (p.Leu17Leu) variant of FAN1 (Fanconi-associated nuclease 1)
L17L (p.Leu17Leu) in FAN1 (Fanconi-associated nuclease 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
L17L (p.Leu17Leu) variant details
- p.Leu17Leu
- rs759933516
- gnomAD 15-30904714-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.14
- CADD 8.40
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available