E69D (p.Glu69Asp) variant of SLC22A1 (O15245)
E69D (p.Glu69Asp) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E69D (p.Glu69Asp) variant details
- p.Glu69Asp
- gnomAD 6-160122142-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.31
- CADD 22.70
- PolyPhen-2 0.91
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available