V54L (p.Val54Leu) variant of GBA1 (P04062)
V54L (p.Val54Leu) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Gaucher disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
V54L (p.Val54Leu) variant details
- p.Val54Leu
- rs121908302
- ClinGen CA253084
- ClinVar RCV000004556
- UniProt VAR 003255
- Likely pathogenic
- Gaucher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.86
- CADD 25.00
- PolyPhen-2 0.80
- SIFT 0.00
- ClinVar: Likely pathogenic (Gaucher disease)
- EBI: Pathogenic (in GD)
- UniProt: Pathogenic (in GD)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations. (PMID 8829654)
- Cited in: Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? (PMID 10352942)