G125S (p.Gly125Ser) variant of SV2A (Synaptic vesicle glycoprotein 2A)
G125S (p.Gly125Ser) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
G125S (p.Gly125Ser) variant details
- p.Gly125Ser
- ExAC rs782279997
- TOPMed rs782279997
- gnomAD rs782279997
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.07
- MetaSVM -1.01
- CADD 13.30
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available