E69K (p.Glu69Lys) variant of SLC22A1 (O15245)
E69K (p.Glu69Lys) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
E69K (p.Glu69Lys) variant details
- p.Glu69Lys
- gnomAD 6-160122140-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.41
- CADD 22.80
- PolyPhen-2 0.84
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available