I33M (p.Ile33Met) variant of G6PD (P11413)
I33M (p.Ile33Met) in G6PD (P11413) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
I33M (p.Ile33Met) variant details
- p.Ile33Met
- Ensembl rs1163458456
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.66
- CADD 18.00
- PolyPhen-2 0.33
- SIFT 0.03
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available