E19Q (p.Glu19Gln) variant of SLC47A1 (Q96FL8)
E19Q (p.Glu19Gln) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
E19Q (p.Glu19Gln) variant details
- p.Glu19Gln
- ExAC rs779144949
- gnomAD rs779144949
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.05
- CADD 13.30
- PolyPhen-2 0.01
- SIFT 0.48
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available