F34C (p.Phe34Cys) variant of FAN1 (Fanconi-associated nuclease 1)
F34C (p.Phe34Cys) 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 0.65 / 1. The record also includes population frequency data and structural context.
F34C (p.Phe34Cys) variant details
- p.Phe34Cys
- TOPMed rs1475814624
- Uncertain significance
- Karyomegalic interstitial nephritis
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.80
- CADD 25.90
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Karyomegalic interstitial nephritis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available