E40K (p.Glu40Lys) variant of SV2A (Synaptic vesicle glycoprotein 2A)
E40K (p.Glu40Lys) 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 0.34 / 1. The record also includes population frequency data and structural context.
E40K (p.Glu40Lys) variant details
- p.Glu40Lys
- NCI-TCGA Cosmic COSV6496
- cosmic curated COSV64964
- TOPMed rs1160683240
- gnomAD rs1160683240
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.41
- MetaLR 0.06
- MetaSVM -1.04
- CADD 22.80
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available