E138K (p.Glu138Lys) variant of SV2A (Synaptic vesicle glycoprotein 2A)
E138K (p.Glu138Lys) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
E138K (p.Glu138Lys) variant details
- p.Glu138Lys
- ExAC rs782692651
- gnomAD rs782692651
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.24
- MetaLR 0.18
- MetaSVM -0.82
- CADD 19.30
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available