E6G (p.Glu6Gly) variant of SLC47A1 (Q96FL8)
E6G (p.Glu6Gly) 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.
E6G (p.Glu6Gly) variant details
- p.Glu6Gly
- TOPMed rs1915916610
- gnomAD rs1915916610
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.05
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 3.4e-05)
- Structural context available