G119R (p.Gly119Arg) variant of GBA1 (P04062)
G119R (p.Gly119Arg) 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 0.97 / 1. The record also includes structural context.
G119R (p.Gly119Arg) variant details
- p.Gly119Arg
- rs1553218180
- Ensembl rs1553218180
- ClinGen CA342726337
- ClinVar RCV001811933
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available