E74K (p.Glu74Lys) variant of SV2A (Synaptic vesicle glycoprotein 2A)
E74K (p.Glu74Lys) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E74K (p.Glu74Lys) variant details
- p.Glu74Lys
- ExAC rs782445602
- gnomAD rs782445602
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.14
- ESM-1b 0.87
- AlphaMissense 0.19
- MetaLR 0.04
- MetaSVM -1.13
- CADD 20.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available