H290Y (p.His290Tyr) variant of VPS35 (Q96QK1)
H290Y (p.His290Tyr) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
H290Y (p.His290Tyr) variant details
- p.His290Tyr
- ExAC rs754487190
- gnomAD rs754487190
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.46
- CADD 24.40
- PolyPhen-2 0.42
- SIFT 0.04
- Population evidence available
- Structural context available