P13L (p.Pro13Leu) variant of FAN1 (Fanconi-associated nuclease 1)
P13L (p.Pro13Leu) 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 0.30 / 1. The record also includes population frequency data and structural context.
P13L (p.Pro13Leu) variant details
- p.Pro13Leu
- ExAC rs770014670
- gnomAD rs770014670
- Uncertain significance
- Karyomegalic interstitial nephritis
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.27
- CADD 22.50
- PolyPhen-2 0.48
- SIFT 0.09
- ClinVar: Uncertain significance (Karyomegalic interstitial nephritis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available