E54V (p.Glu54Val) variant of SLC18A2 (Q05940)
E54V (p.Glu54Val) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and published literature.
E54V (p.Glu54Val) variant details
- p.Glu54Val
- gnomAD 10-117244010-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- CADD 21.80
- PolyPhen-2 0.07
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 2.1e-05)
- Literature evidence available