E111Q (p.Glu111Gln) variant of SV2A (Synaptic vesicle glycoprotein 2A)
E111Q (p.Glu111Gln) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. Clinical records from ClinVar, EBI, 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 0.29 / 1. The record also includes population frequency data and structural context.
E111Q (p.Glu111Gln) variant details
- p.Glu111Gln
- rs782685059
- ClinGen CA1071264
- ClinVar RCV004304746
- ExAC rs782685059
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.02
- MetaSVM -1.04
- CADD 16.10
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available