E6K (p.Glu6Lys) variant of SLC47A1 (Q96FL8)
E6K (p.Glu6Lys) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
E6K (p.Glu6Lys) variant details
- p.Glu6Lys
- ExAC rs762440633
- TOPMed rs762440633
- gnomAD rs762440633
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.10
- CADD 16.00
- PolyPhen-2 0.12
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available