L306F (p.Leu306Phe) variant of VPS35 (Q96QK1)
L306F (p.Leu306Phe) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
L306F (p.Leu306Phe) variant details
- p.Leu306Phe
- ExAC rs756137934
- gnomAD rs756137934
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.48
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available