V46I (p.Val46Ile) variant of FAN1 (Fanconi-associated nuclease 1)
V46I (p.Val46Ile) in FAN1 (Fanconi-associated nuclease 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
V46I (p.Val46Ile) variant details
- p.Val46Ile
- rs371593413
- ESP rs371593413
- ExAC rs371593413
- gnomAD rs371593413
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0854
- REVEL 0.09
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available