G122R (p.Gly122Arg) variant of GBA1 (P04062)
G122R (p.Gly122Arg) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G122R (p.Gly122Arg) variant details
- p.Gly122Arg
- rs2524844959
- ClinGen CA342726268
- ClinVar RCV004066564
- Likely pathogenic
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.95
- CADD 25.60
- PolyPhen-2 0.93
- SIFT 0.03
- ClinVar: Likely pathogenic (not specified)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available