E2D (p.Glu2Asp) variant of GBA1 (P04062)
E2D (p.Glu2Asp) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E2D (p.Glu2Asp) variant details
- p.Glu2Asp
- gnomAD rs1672051538
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.41
- CADD 17.80
- PolyPhen-2 0.90
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available