I31M (p.Ile31Met) variant of FAN1 (Fanconi-associated nuclease 1)
I31M (p.Ile31Met) in FAN1 (Fanconi-associated nuclease 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Karyomegalic interstitial nephritis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
I31M (p.Ile31Met) variant details
- p.Ile31Met
- rs781134478
- ClinGen CA235918
- ClinVar RCV000171228
- ClinVar RCV002470785
- Conflicting interpretations
- not provided; Karyomegalic interstitial nephritis
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.16
- CADD 15.40
- PolyPhen-2 0.38
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not provided; Karyomegalic interstitial nephritis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available