E14R (p.Glu14Arg) variant of SLC18A2 (Q05940)
E14R (p.Glu14Arg) in SLC18A2 (Q05940) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E14R (p.Glu14Arg) variant details
- p.Glu14Arg
- gnomAD 10-117241731-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.251
- CADD 24.10
- Population evidence available
- Structural context available
- Literature evidence available