R58W (p.Arg58Trp) variant of FAN1 (Fanconi-associated nuclease 1)
R58W (p.Arg58Trp) 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 0.39 / 1. The record also includes population frequency data and structural context.
R58W (p.Arg58Trp) variant details
- p.Arg58Trp
- rs754760573
- ExAC rs754760573
- gnomAD rs754760573
- Uncertain significance
- Karyomegalic interstitial nephritis
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.14
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (Karyomegalic interstitial nephritis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available