R123G (p.Arg123Gly) variant of SV2A (Synaptic vesicle glycoprotein 2A)
R123G (p.Arg123Gly) 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.
R123G (p.Arg123Gly) variant details
- p.Arg123Gly
- 1000Genomes rs781971375
- ExAC rs781971375
- gnomAD rs781971375
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.09
- MetaSVM -1.06
- CADD 15.50
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available