F34I (p.Phe34Ile) variant of FAN1 (Fanconi-associated nuclease 1)
F34I (p.Phe34Ile) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
F34I (p.Phe34Ile) variant details
- p.Phe34Ile
- TOPMed rs1190522763
- gnomAD rs1190522763
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.71
- CADD 25.20
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available