G135S (p.Gly135Ser) variant of SV2A (Synaptic vesicle glycoprotein 2A)
G135S (p.Gly135Ser) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G135S (p.Gly135Ser) variant details
- p.Gly135Ser
- ExAC rs782605512
- gnomAD rs782605512
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.04
- MetaSVM -1.05
- CADD 13.70
- Most common in the Non-Finnish European population (allele frequency 2.5e-05)
- Structural context available