E54K (p.Glu54Lys) variant of SLC18A2 (Q05940)
E54K (p.Glu54Lys) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and published literature.
E54K (p.Glu54Lys) variant details
- p.Glu54Lys
- gnomAD 10-117244009-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- CADD 20.90
- PolyPhen-2 0.02
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Literature evidence available