I18M (p.Ile18Met) variant of SV2A (Synaptic vesicle glycoprotein 2A)
I18M (p.Ile18Met) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
I18M (p.Ile18Met) variant details
- p.Ile18Met
- Ensembl rs1553764176
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.22
- MetaLR 0.04
- MetaSVM -1.07
- CADD 13.90
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available