L289V (p.Leu289Val) variant of VPS35 (Q96QK1)
L289V (p.Leu289Val) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L289V (p.Leu289Val) variant details
- p.Leu289Val
- ExAC rs778203456
- gnomAD rs778203456
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.35
- CADD 25.40
- PolyPhen-2 0.94
- SIFT 0.02
- Population evidence available
- Structural context available