E6K (p.Glu6Lys) variant of SLC22A5 (O76082)
E6K (p.Glu6Lys) in SLC22A5 (O76082) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
E6K (p.Glu6Lys) variant details
- p.Glu6Lys
- TOPMed rs1351553268
- gnomAD rs1351553268
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.58
- CADD 24.60
- PolyPhen-2 0.18
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available