G125C (p.Gly125Cys) variant of SV2A (Synaptic vesicle glycoprotein 2A)
G125C (p.Gly125Cys) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G125C (p.Gly125Cys) variant details
- p.Gly125Cys
- ExAC rs782279997
- TOPMed rs782279997
- gnomAD rs782279997
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.14
- ESM-1b 1.00
- AlphaMissense 0.14
- MetaLR 0.12
- MetaSVM -0.84
- CADD 22.10
- Most common in the HGDP:SAN population (allele frequency 0.25)
- Structural context available