E3A (p.Glu3Ala) variant of SLC2A2 (P11168)
E3A (p.Glu3Ala) in SLC2A2 (P11168) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E3A (p.Glu3Ala) variant details
- p.Glu3Ala
- gnomAD rs1716715700
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.26
- CADD 18.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available