E111K (p.Glu111Lys) variant of SV2A (Synaptic vesicle glycoprotein 2A)
E111K (p.Glu111Lys) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E111K (p.Glu111Lys) variant details
- p.Glu111Lys
- rs782685059
- NCI-TCGA Cosmic COSV6496
- cosmic curated COSV64965
- ExAC rs782685059
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.21
- MetaLR 0.02
- MetaSVM -1.03
- CADD 18.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available