E33G (p.Glu33Gly) variant of SLC47A1 (Q96FL8)
E33G (p.Glu33Gly) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E33G (p.Glu33Gly) variant details
- p.Glu33Gly
- gnomAD 17-19534037-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.01
- CADD 16.30
- PolyPhen-2 0.01
- SIFT 0.25
- Most common in the Ashkenazi Jewish population (allele frequency 4e-05)
- Structural context available
- Literature evidence available