G39D (p.Gly39Asp) variant of GBA1 (P04062)
G39D (p.Gly39Asp) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
G39D (p.Gly39Asp) variant details
- p.Gly39Asp
- 1000Genomes rs200378040
- ExAC rs200378040
- TOPMed rs200378040
- gnomAD rs200378040
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.46
- CADD 23.10
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available