I132L (p.Ile132Leu) variant of GBA1 (P04062)
I132L (p.Ile132Leu) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
I132L (p.Ile132Leu) variant details
- p.Ile132Leu
- TOPMed rs1671970644
- gnomAD rs1671970644
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.62
- CADD 23.60
- PolyPhen-2 0.52
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available