R58Q (p.Arg58Gln) variant of FAN1 (Fanconi-associated nuclease 1)
R58Q (p.Arg58Gln) in FAN1 (Fanconi-associated nuclease 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Karyomegalic interstitial nephritis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
R58Q (p.Arg58Gln) variant details
- p.Arg58Gln
- TOPMed rs2061936152
- Uncertain significance
- Karyomegalic interstitial nephritis
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.09
- CADD 11.50
- PolyPhen-2 0.00
- SIFT 0.45
- ClinVar: Uncertain significance (Karyomegalic interstitial nephritis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available