E14E (p.Glu14Glu) variant of SLC18A2 (Q05940)
E14E (p.Glu14Glu) in SLC18A2 (Q05940) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
E14E (p.Glu14Glu) variant details
- p.Glu14Glu
- rs775050186
- gnomAD 10-117241735-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.293
- CADD 20.40
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available