V391L (p.Val391Leu) variant of GBA1 (P04062)
V391L (p.Val391Leu) 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 type I; Gaucher disease type II; Gaucher disease type III. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
V391L (p.Val391Leu) variant details
- p.Val391Leu
- rs398123527
- ClinGen CA221384
- ClinVar RCV000180534
- ClinVar RCV000781412
- Pathogenic/Likely pathogenic
- Gaucher disease type I; Gaucher disease type II; Gaucher disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.86
- AlphaMissense 0.86
- MetaLR 0.96
- MetaSVM 1.06
- CADD 25.20
- PolyPhen-2 0.91
- ClinVar: Pathogenic/Likely pathogenic (Gaucher disease type I; Gaucher disease type II; Gaucher disease)
- EBI: Pathogenic (in GD1)
- UniProt: Pathogenic (in GD1)
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Cited in: Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher… (PMID 9153297)
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)