E76K (p.Glu76Lys) variant of SV2A (Synaptic vesicle glycoprotein 2A)
E76K (p.Glu76Lys) 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 0.37 / 1. The record also includes population frequency data and structural context.
E76K (p.Glu76Lys) variant details
- p.Glu76Lys
- rs587633846
- NCI-TCGA Cosmic COSV6496
- cosmic curated COSV64964
- 1000Genomes rs587633846
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.13
- ESM-1b 0.39
- AlphaMissense 0.36
- MetaLR 0.08
- MetaSVM -1.09
- CADD 24.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available