S32L (p.Ser32Leu) variant of FAN1 (Fanconi-associated nuclease 1)
S32L (p.Ser32Leu) 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 0.34 / 1. The record also includes population frequency data and structural context.
S32L (p.Ser32Leu) variant details
- p.Ser32Leu
- rs748042109
- ExAC rs748042109
- TOPMed rs748042109
- gnomAD rs748042109
- Uncertain significance
- Inborn genetic diseases; Karyomegalic interstitial nephritis
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.25
- CADD 17.30
- PolyPhen-2 0.02
- SIFT 0.12
- 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 2.4e-05)
- Structural context available