R86Q (p.Arg86Gln) variant of GBA1 (P04062)
R86Q (p.Arg86Gln) 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 0.47 / 1. The record also includes population frequency data and structural context.
R86Q (p.Arg86Gln) variant details
- p.Arg86Gln
- rs144173415
- ClinGen CA1141803
- ClinVar RCV003328522
- ESP rs144173415
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.29
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.32
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available