I70F (p.Ile70Phe) variant of VPS35 (Q96QK1)
I70F (p.Ile70Phe) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
I70F (p.Ile70Phe) variant details
- p.Ile70Phe
- ExAC rs781057884
- TOPMed rs781057884
- gnomAD rs781057884
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.49
- CADD 26.20
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available