E47G (p.Glu47Gly) variant of SLC22A5 (O76082)
E47G (p.Glu47Gly) in SLC22A5 (O76082) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
E47G (p.Glu47Gly) variant details
- p.Glu47Gly
- gnomAD 5-132370112-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.45
- CADD 21.60
- PolyPhen-2 0.23
- SIFT 0.15
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available