E14K (p.Glu14Lys) variant of SLC18A2 (Q05940)
E14K (p.Glu14Lys) 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 and structural context.
E14K (p.Glu14Lys) variant details
- p.Glu14Lys
- TOPMed rs1309687080
- gnomAD rs1309687080
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.21
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available