G124R (p.Gly124Arg) variant of SV2A (Synaptic vesicle glycoprotein 2A)
G124R (p.Gly124Arg) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G124R (p.Gly124Arg) variant details
- p.Gly124Arg
- 1000Genomes rs199502893
- ExAC rs199502893
- TOPMed rs199502893
- gnomAD rs199502893
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.05
- MetaSVM -1.04
- CADD 16.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available