Q32R (p.Gln32Arg) variant of GBA1 (P04062)
Q32R (p.Gln32Arg) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
Q32R (p.Gln32Arg) variant details
- p.Gln32Arg
- rs1209553531
- ClinGen CA342729800
- ClinVar RCV004395185
- TOPMed rs1209553531
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.48
- AlphaMissense 0.24
- MetaLR 0.05
- MetaSVM -1.06
- CADD 22.20
- PolyPhen-2 0.24
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available