S62G (p.Ser62Gly) variant of SV2A (Synaptic vesicle glycoprotein 2A)
S62G (p.Ser62Gly) 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.
S62G (p.Ser62Gly) variant details
- p.Ser62Gly
- TOPMed rs889869746
- gnomAD rs889869746
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.01
- MetaSVM -0.97
- CADD 12.40
- Most common in the REMAINING population (allele frequency 0.00015)
- Structural context available