D83E (p.Asp83Glu) variant of VPS35 (Q96QK1)
D83E (p.Asp83Glu) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
D83E (p.Asp83Glu) variant details
- p.Asp83Glu
- Ensembl rs12920740
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.11
- CADD 15.40
- PolyPhen-2 0.16
- SIFT 0.65
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available