R112G (p.Arg112Gly) variant of SV2A (Synaptic vesicle glycoprotein 2A)
R112G (p.Arg112Gly) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R112G (p.Arg112Gly) variant details
- p.Arg112Gly
- 1000Genomes rs587649813
- ExAC rs587649813
- gnomAD rs587649813
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.03
- MetaSVM -1.06
- CADD 18.90
- Most common in the HGDP:BOUGAINVILLE population (allele frequency 1)
- Structural context available