E105D (p.Glu105Asp) variant of SV2A (Synaptic vesicle glycoprotein 2A)
E105D (p.Glu105Asp) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
E105D (p.Glu105Asp) variant details
- p.Glu105Asp
- TOPMed rs1350147713
- gnomAD rs1350147713
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.01
- MetaSVM -0.93
- CADD 8.34
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available