P39S (p.Pro39Ser) variant of FAN1 (Fanconi-associated nuclease 1)
P39S (p.Pro39Ser) 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 0.67 / 1. The record also includes population frequency data and structural context.
P39S (p.Pro39Ser) variant details
- p.Pro39Ser
- 1000Genomes rs183652083
- ExAC rs183652083
- TOPMed rs183652083
- gnomAD rs183652083
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- REVEL 0.72
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available