E5K (p.Glu5Lys) variant of SLC47A1 (Q96FL8)
E5K (p.Glu5Lys) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
E5K (p.Glu5Lys) variant details
- p.Glu5Lys
- 1000Genomes rs912701678
- TOPMed rs912701678
- gnomAD rs912701678
- Missense
- Variant Prioritization Score for Impact Estimate 0.0946
- REVEL 0.08
- CADD 8.50
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- Structural context available