Q109R (p.Gln109Arg) variant of GBA1 (P04062)
Q109R (p.Gln109Arg) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
Q109R (p.Gln109Arg) variant details
- p.Gln109Arg
- rs1191100930
- ClinGen CA342726500
- ClinVar RCV003409094
- TOPMed rs1191100930
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.34
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available