G4S (p.Gly4Ser) variant of SV2A (Synaptic vesicle glycoprotein 2A)
G4S (p.Gly4Ser) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
G4S (p.Gly4Ser) variant details
- p.Gly4Ser
- Ensembl rs2101626018
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.05
- MetaSVM -1.07
- CADD 8.54
- Most common in the HGDP:SAN population (allele frequency 0.25)
- Structural context available