R67G (p.Arg67Gly) variant of SV2A (Synaptic vesicle glycoprotein 2A)
R67G (p.Arg67Gly) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R67G (p.Arg67Gly) variant details
- p.Arg67Gly
- gnomAD rs1050227446
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.04
- MetaSVM -1.07
- CADD 19.10
- Most common in the REMAINING population (allele frequency 0.00015)
- Structural context available