F34L (p.Phe34Leu) variant of FAN1 (Fanconi-associated nuclease 1)
F34L (p.Phe34Leu) in FAN1 (Fanconi-associated nuclease 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
F34L (p.Phe34Leu) variant details
- p.Phe34Leu
- gnomAD 15-30904761-GT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.198
- CADD 16.60
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available