G12E (p.Gly12Glu) variant of SLC22A1 (O15245)
G12E (p.Gly12Glu) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
G12E (p.Gly12Glu) variant details
- p.Gly12Glu
- ExAC rs756098824
- TOPMed rs756098824
- gnomAD rs756098824
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.93
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available