E52D (p.Glu52Asp) variant of SV2A (Synaptic vesicle glycoprotein 2A)
E52D (p.Glu52Asp) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
E52D (p.Glu52Asp) variant details
- p.Glu52Asp
- rs782780934
- NCI-TCGA Cosmic COSV6496
- cosmic curated COSV64965
- ExAC rs782780934
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0947
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.01
- MetaSVM -1.00
- CADD 5.97
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available