A40A (p.Ala40Ala) variant of FAN1 (Fanconi-associated nuclease 1)
A40A (p.Ala40Ala) in FAN1 (Fanconi-associated nuclease 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A40A (p.Ala40Ala) variant details
- p.Ala40Ala
- gnomAD 15-30904783-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.124
- CADD 6.11
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available