L227F (p.Leu227Phe) variant of VPS35 (Q96QK1)
L227F (p.Leu227Phe) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
L227F (p.Leu227Phe) variant details
- p.Leu227Phe
- ESP rs142925902
- ExAC rs142925902
- gnomAD rs142925902
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.67
- CADD 27.90
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available