F282L (p.Phe282Leu) variant of VPS35 (Q96QK1)
F282L (p.Phe282Leu) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
F282L (p.Phe282Leu) variant details
- p.Phe282Leu
- gnomAD rs1256665544
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.35
- CADD 23.40
- PolyPhen-2 0.29
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available