A33E (p.Ala33Glu) variant of H6PD (O95479)
A33E (p.Ala33Glu) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
A33E (p.Ala33Glu) variant details
- p.Ala33Glu
- ExAC rs778117935
- gnomAD rs778117935
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.75
- MetaLR 0.67
- MetaSVM 0.62
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available