E54R (p.Glu54Arg) variant of SLC18A2 (Q05940)
E54R (p.Glu54Arg) in SLC18A2 (Q05940) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and published literature.
E54R (p.Glu54Arg) variant details
- p.Glu54Arg
- gnomAD 10-117244008-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.284
- CADD 28.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available