G124W (p.Gly124Trp) variant of SV2A (Synaptic vesicle glycoprotein 2A)
G124W (p.Gly124Trp) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
G124W (p.Gly124Trp) variant details
- p.Gly124Trp
- rs199502893
- ClinGen CA29981588
- ClinVar RCV004161843
- 1000Genomes rs199502893
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- ESM-1b 1.00
- AlphaMissense 0.24
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available