C44P (p.Cys44Pro) variant of FAN1 (Fanconi-associated nuclease 1)
C44P (p.Cys44Pro) in FAN1 (Fanconi-associated nuclease 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
C44P (p.Cys44Pro) variant details
- p.Cys44Pro
- gnomAD 15-30904788-TTGCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.646
- CADD 27.80
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available