E58K (p.Glu58Lys) variant of SLC22A2 (O15244)
E58K (p.Glu58Lys) in SLC22A2 (O15244) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
E58K (p.Glu58Lys) variant details
- p.Glu58Lys
- rs138397321
- cosmic curated COSV65267
- ESP rs138397321
- ExAC rs138397321
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.31
- CADD 21.50
- PolyPhen-2 0.08
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 0.00015)
- Structural context available