G54E (p.Gly54Glu) variant of SLC22A1 (O15245)
G54E (p.Gly54Glu) 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.
G54E (p.Gly54Glu) variant details
- p.Gly54Glu
- gnomAD 6-160122096-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.42
- CADD 24.40
- PolyPhen-2 0.92
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available