C47C (p.Cys47Cys) variant of FAN1 (Fanconi-associated nuclease 1)
C47C (p.Cys47Cys) in FAN1 (Fanconi-associated nuclease 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
C47C (p.Cys47Cys) variant details
- p.Cys47Cys
- rs144469584
- gnomAD 15-30904804-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.301
- CADD 6.91
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available