P8L (p.Pro8Leu) variant of VPS35 (Q96QK1)
P8L (p.Pro8Leu) 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.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- TOPMed rs1187804419
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.25
- CADD 25.30
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available