I30F (p.Ile30Phe) variant of FAN1 (Fanconi-associated nuclease 1)
I30F (p.Ile30Phe) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
I30F (p.Ile30Phe) variant details
- p.Ile30Phe
- ExAC rs751410785
- TOPMed rs751410785
- gnomAD rs751410785
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.55
- CADD 24.10
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available