G125D (p.Gly125Asp) variant of SV2A (Synaptic vesicle glycoprotein 2A)
G125D (p.Gly125Asp) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
G125D (p.Gly125Asp) variant details
- p.Gly125Asp
- ExAC rs782645514
- TOPMed rs782645514
- gnomAD rs782645514
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.02
- MetaSVM -1.02
- CADD 12.00
- Most common in the REMAINING population (allele frequency 0.00015)
- Structural context available