E14D (p.Glu14Asp) variant of SLC18A2 (Q05940)
E14D (p.Glu14Asp) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E14D (p.Glu14Asp) variant details
- p.Glu14Asp
- gnomAD 10-117241735-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available