S16N (p.Ser16Asn) variant of FAN1 (Fanconi-associated nuclease 1)
S16N (p.Ser16Asn) in FAN1 (Fanconi-associated nuclease 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S16N (p.Ser16Asn) variant details
- p.Ser16Asn
- TOPMed rs1241425858
- gnomAD rs1241425858
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.38
- CADD 23.80
- PolyPhen-2 0.95
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available