G416S (p.Gly416Ser) variant of GBA1 (P04062)
G416S (p.Gly416Ser) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Lewy body dementia; Gaucher disease type I; Gaucher disease type II. 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.
G416S (p.Gly416Ser) variant details
- p.Gly416Ser
- rs121908311
- ClinGen CA253107
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10051
- Pathogenic/Likely pathogenic
- Lewy body dementia; Gaucher disease type I; Gaucher disease type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.96
- CADD 22.40
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Lewy body dementia; Gaucher disease type I; Gaucher disease type)
- EBI: Pathogenic (in GD1 and GD3)
- UniProt: Pathogenic (in GD1 and GD3)
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C]] in… (PMID 10447266)
- Cited in: Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin. (PMID 10466427)