R123M (p.Arg123Met) variant of SV2A (Synaptic vesicle glycoprotein 2A)
R123M (p.Arg123Met) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R123M (p.Arg123Met) variant details
- p.Arg123Met
- ESP rs372412744
- ExAC rs372412744
- TOPMed rs372412744
- gnomAD rs372412744
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.12
- ESM-1b 0.08
- AlphaMissense 0.23
- MetaLR 0.14
- MetaSVM -0.81
- CADD 17.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available