M50I (p.Met50Ile) variant of FAN1 (Fanconi-associated nuclease 1)
M50I (p.Met50Ile) 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 0.51 / 1. The record also includes population frequency data and structural context.
M50I (p.Met50Ile) variant details
- p.Met50Ile
- TOPMed rs1007940466
- gnomAD rs1007940466
- Uncertain significance
- Karyomegalic interstitial nephritis
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.42
- CADD 23.60
- PolyPhen-2 0.14
- SIFT 0.01
- 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