E47Q (p.Glu47Gln) variant of SLC22A5 (O76082)
E47Q (p.Glu47Gln) in SLC22A5 (O76082) 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 0.44 / 1. The record also includes population frequency data and structural context.
E47Q (p.Glu47Gln) variant details
- p.Glu47Gln
- rs1156522490
- gnomAD rs1156522490
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.34
- CADD 20.10
- PolyPhen-2 0.05
- SIFT 0.29
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available