D100E (p.Asp100Glu) variant of G6PD (P11413)
D100E (p.Asp100Glu) in G6PD (P11413) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
D100E (p.Asp100Glu) variant details
- p.Asp100Glu
- gnomAD rs1557230641
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.30
- CADD 6.07
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available