N35D (p.Asn35Asp) variant of FAN1 (Fanconi-associated nuclease 1)
N35D (p.Asn35Asp) 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 0.35 / 1. The record also includes population frequency data and structural context.
N35D (p.Asn35Asp) variant details
- p.Asn35Asp
- ExAC rs769939083
- TOPMed rs769939083
- gnomAD rs769939083
- Uncertain significance
- Karyomegalic interstitial nephritis
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.35
- CADD 23.30
- PolyPhen-2 0.61
- SIFT 0.02
- ClinVar: Uncertain significance (Karyomegalic interstitial nephritis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available