D115E (p.Asp115Glu) variant of SV2A (Synaptic vesicle glycoprotein 2A)
D115E (p.Asp115Glu) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
D115E (p.Asp115Glu) variant details
- p.Asp115Glu
- cosmic curated COSV10529
- Ensembl rs2092489973
- Missense
- Variant Prioritization Score for Impact Estimate 0.096
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.01
- MetaSVM -0.94
- CADD 2.81
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available