E111D (p.Glu111Asp) variant of GBA1 (P04062)
E111D (p.Glu111Asp) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E111D (p.Glu111Asp) variant details
- p.Glu111Asp
- TOPMed rs1478818930
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.33
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.59
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available