E166K (p.Glu166Lys) variant of VPS35 (Q96QK1)
E166K (p.Glu166Lys) 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.
E166K (p.Glu166Lys) variant details
- p.Glu166Lys
- ExAC rs756353898
- gnomAD rs756353898
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.25
- CADD 23.10
- PolyPhen-2 0.16
- SIFT 0.24
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available