K23E (p.Lys23Glu) variant of SV2A (Synaptic vesicle glycoprotein 2A)
K23E (p.Lys23Glu) 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.
K23E (p.Lys23Glu) variant details
- p.Lys23Glu
- ESP rs142875032
- ExAC rs142875032
- TOPMed rs142875032
- gnomAD rs142875032
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.85
- MetaLR 0.09
- MetaSVM -1.01
- CADD 26.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available