E83K (p.Glu83Lys) variant of SLC22A2 (O15244)
E83K (p.Glu83Lys) 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 0.19 / 1. The record also includes population frequency data and structural context.
E83K (p.Glu83Lys) variant details
- p.Glu83Lys
- rs750937051
- NCI-TCGA Cosmic COSV6526
- cosmic curated COSV65265
- ExAC rs750937051
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.04
- CADD 6.39
- PolyPhen-2 0.01
- SIFT 0.65
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available