V230G (p.Val230Gly) variant of GBA1 (P04062)
V230G (p.Val230Gly) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Gaucher disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
V230G (p.Val230Gly) variant details
- p.Val230Gly
- rs381427
- ClinGen CA1141704
- ClinVar RCV003226440
- UniProt VAR 003276
- Pathogenic/Likely pathogenic
- Gaucher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.62
- AlphaMissense 0.16
- MetaLR 0.82
- MetaSVM 0.51
- CADD 22.50
- PolyPhen-2 0.01
- ClinVar: Pathogenic/Likely pathogenic (Gaucher disease)
- EBI: Pathogenic (in GD1)
- UniProt: Pathogenic (in GD1)
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Cited in: A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online. (PMID 10206680)
- Cited in: A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells. (PMID 8294033)