E19K (p.Glu19Lys) variant of SLC47A1 (Q96FL8)
E19K (p.Glu19Lys) 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, published literature, and structural context.
E19K (p.Glu19Lys) variant details
- p.Glu19Lys
- gnomAD 17-19533994-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.05
- CADD 14.50
- PolyPhen-2 0.01
- SIFT 0.74
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available