A29E (p.Ala29Glu) variant of SLC18A2 (Q05940)
A29E (p.Ala29Glu) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
A29E (p.Ala29Glu) variant details
- p.Ala29Glu
- ExAC rs755098533
- TOPMed rs755098533
- gnomAD rs755098533
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available