E5K (p.Glu5Lys) variant of SLC18A2 (Q05940)
E5K (p.Glu5Lys) in SLC18A2 (Q05940) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
E5K (p.Glu5Lys) variant details
- p.Glu5Lys
- rs1319576360
- ClinGen CA378507192
- ClinVar RCV001934239
- gnomAD rs1319576360
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- CADD 25.10
- PolyPhen-2 0.02
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available