C44F (p.Cys44Phe) variant of FAN1 (Fanconi-associated nuclease 1)
C44F (p.Cys44Phe) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
C44F (p.Cys44Phe) variant details
- p.Cys44Phe
- TOPMed rs1214643381
- gnomAD rs1214643381
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.96
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available