R123S (p.Arg123Ser) variant of SV2A (Synaptic vesicle glycoprotein 2A)
R123S (p.Arg123Ser) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R123S (p.Arg123Ser) variant details
- p.Arg123Ser
- ExAC rs781913070
- TOPMed rs781913070
- gnomAD rs781913070
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.07
- MetaSVM -1.08
- CADD 6.32
- Most common in the REMAINING population (allele frequency 0.00015)
- Structural context available