L106M (p.Leu106Met) variant of GBA1 (P04062)
L106M (p.Leu106Met) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
L106M (p.Leu106Met) variant details
- p.Leu106Met
- TOPMed rs1671975792
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.59
- CADD 23.10
- PolyPhen-2 0.58
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available