E170K (p.Glu170Lys) variant of VPS35 (Q96QK1)
E170K (p.Glu170Lys) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E170K (p.Glu170Lys) variant details
- p.Glu170Lys
- gnomAD rs1401575639
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.13
- CADD 24.40
- PolyPhen-2 0.01
- SIFT 0.34
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available