Y54N (p.Tyr54Asn) variant of FAN1 (Fanconi-associated nuclease 1)
Y54N (p.Tyr54Asn) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
Y54N (p.Tyr54Asn) variant details
- p.Tyr54Asn
- gnomAD rs2061935554
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.54
- CADD 26.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available