E4K (p.Glu4Lys) variant of FAN1 (Fanconi-associated nuclease 1)
E4K (p.Glu4Lys) 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 Inborn genetic diseases; Karyomegalic interstitial nephritis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
E4K (p.Glu4Lys) variant details
- p.Glu4Lys
- ESP rs369398471
- ExAC rs369398471
- TOPMed rs369398471
- gnomAD rs369398471
- Uncertain significance
- Inborn genetic diseases; Karyomegalic interstitial nephritis
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.22
- CADD 21.40
- PolyPhen-2 0.09
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases; Karyomegalic interstitial nephritis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available