E21E (p.Glu21Glu) variant of H6PD (O95479)
E21E (p.Glu21Glu) in H6PD (O95479) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
E21E (p.Glu21Glu) variant details
- p.Glu21Glu
- rs1570087898
- gnomAD 1-9244997-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.1
- CADD 2.80
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available