G68R (p.Gly68Arg) variant of SV2A (Synaptic vesicle glycoprotein 2A)
G68R (p.Gly68Arg) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G68R (p.Gly68Arg) variant details
- p.Gly68Arg
- Ensembl rs2092491484
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.31
- MetaLR 0.04
- MetaSVM -1.13
- CADD 16.60
- Most common in the 1KG:MSL population (allele frequency 0.31)
- Structural context available