E130D (p.Glu130Asp) variant of SV2A (Synaptic vesicle glycoprotein 2A)
E130D (p.Glu130Asp) 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 structural context.
E130D (p.Glu130Asp) variant details
- p.Glu130Asp
- Ensembl rs2092489000
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.09
- MetaSVM -1.05
- SIFT 0.27
- Structural context available