E58Q (p.Glu58Gln) variant of SLC22A2 (O15244)
E58Q (p.Glu58Gln) in SLC22A2 (O15244) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
E58Q (p.Glu58Gln) variant details
- p.Glu58Gln
- ESP rs138397321
- ExAC rs138397321
- TOPMed rs138397321
- gnomAD rs138397321
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.16
- CADD 16.10
- PolyPhen-2 0.15
- SIFT 0.07
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available