G416R (p.Gly416Arg) variant of GBA1 (P04062)
G416R (p.Gly416Arg) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Gaucher disease; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G416R (p.Gly416Arg) variant details
- p.Gly416Arg
- rs121908311
- ClinGen CA342714017
- ClinVar RCV004527086
- ClinVar RCV005618357
- Conflicting interpretations
- Gaucher disease; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.96
- CADD 22.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Gaucher disease; not specified)
- EBI: Likely pathogenic (in GD1 and GD3)
- UniProt: Likely pathogenic (in GD1 and GD3)
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)