E89K (p.Glu89Lys) variant of SV2A (Synaptic vesicle glycoprotein 2A)
E89K (p.Glu89Lys) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
E89K (p.Glu89Lys) variant details
- p.Glu89Lys
- cosmic curated COSV64965
- gnomAD rs1553764126
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.20
- ESM-1b 0.82
- AlphaMissense 0.67
- MetaLR 0.15
- MetaSVM -0.92
- CADD 24.90
- Most common in the 1KG:MSL population (allele frequency 0.19)
- Structural context available