R67Q (p.Arg67Gln) variant of SV2A (Synaptic vesicle glycoprotein 2A)
R67Q (p.Arg67Gln) 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 0.24 / 1. The record also includes population frequency data and structural context.
R67Q (p.Arg67Gln) variant details
- p.Arg67Gln
- rs782641312
- ExAC rs782641312
- TOPMed rs782641312
- gnomAD rs782641312
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.03
- MetaSVM -1.05
- CADD 16.70
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available