E14Q (p.Glu14Gln) variant of SLC18A2 (Q05940)
E14Q (p.Glu14Gln) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
E14Q (p.Glu14Gln) variant details
- p.Glu14Gln
- gnomAD 10-117241733-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- CADD 22.90
- PolyPhen-2 0.02
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available
- Literature evidence available