E15K (p.Glu15Lys) variant of SLC47A1 (Q96FL8)
E15K (p.Glu15Lys) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E15K (p.Glu15Lys) variant details
- p.Glu15Lys
- gnomAD rs1479387747
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.04
- CADD 10.10
- PolyPhen-2 0.02
- SIFT 0.72
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available