E3K (p.Glu3Lys) variant of SV2A (Synaptic vesicle glycoprotein 2A)
E3K (p.Glu3Lys) in SV2A (Synaptic vesicle glycoprotein 2A) 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.
E3K (p.Glu3Lys) variant details
- p.Glu3Lys
- gnomAD rs1553764192
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.36
- MetaLR 0.17
- MetaSVM -0.67
- CADD 23.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available