G122E (p.Gly122Glu) variant of GBA1 (P04062)
G122E (p.Gly122Glu) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
G122E (p.Gly122Glu) variant details
- p.Gly122Glu
- TOPMed rs868211463
- gnomAD rs868211463
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.92
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available