D128E (p.Asp128Glu) variant of SV2A (Synaptic vesicle glycoprotein 2A)
D128E (p.Asp128Glu) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
D128E (p.Asp128Glu) variant details
- p.Asp128Glu
- Ensembl rs1295294081
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.04
- MetaSVM -1.06
- CADD 3.06
- Most common in the REMAINING population (allele frequency 0.00015)
- Structural context available