R136G (p.Arg136Gly) variant of SV2A (Synaptic vesicle glycoprotein 2A)
R136G (p.Arg136Gly) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
R136G (p.Arg136Gly) variant details
- p.Arg136Gly
- 1000Genomes rs782452680
- ExAC rs782452680
- TOPMed rs782452680
- gnomAD rs782452680
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- ESM-1b 0.00
- AlphaMissense 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available