V293G (p.Val293Gly) variant of VPS35 (Q96QK1)
V293G (p.Val293Gly) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
V293G (p.Val293Gly) variant details
- p.Val293Gly
- TOPMed rs1484336774
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.72
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available