E85K (p.Glu85Lys) variant of SV2A (Synaptic vesicle glycoprotein 2A)
E85K (p.Glu85Lys) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E85K (p.Glu85Lys) variant details
- p.Glu85Lys
- ExAC rs782141787
- gnomAD rs782141787
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.25
- ESM-1b 0.10
- AlphaMissense 0.97
- MetaLR 0.20
- MetaSVM -0.76
- CADD 24.90
- Most common in the 1KG:MSL population (allele frequency 0.19)
- Structural context available