R123K (p.Arg123Lys) variant of SV2A (Synaptic vesicle glycoprotein 2A)
R123K (p.Arg123Lys) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R123K (p.Arg123Lys) variant details
- p.Arg123Lys
- ESP rs372412744
- ExAC rs372412744
- TOPMed rs372412744
- gnomAD rs372412744
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.09
- MetaSVM -1.05
- CADD 14.20
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available