I132V (p.Ile132Val) variant of GBA1 (P04062)
I132V (p.Ile132Val) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
I132V (p.Ile132Val) variant details
- p.Ile132Val
- TOPMed rs1671970644
- gnomAD rs1671970644
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.67
- CADD 23.20
- PolyPhen-2 0.55
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available