V414L (p.Val414Leu) variant of GBA1 (P04062)
V414L (p.Val414Leu) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; 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.
V414L (p.Val414Leu) variant details
- p.Val414Leu
- rs398123528
- ClinGen CA342714108
- ClinVar RCV001531641
- ClinVar RCV004699411
- Pathogenic/Likely pathogenic
- not provided; Gaucher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.87
- CADD 23.70
- PolyPhen-2 0.79
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided; Gaucher disease)
- EBI: Pathogenic (in GD and GD1)
- UniProt: Pathogenic (in GD and GD1)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: The molecular mechanism of Gaucher disease caused by compound heterozygous mutations in GBA1 gene. (PMID 36776904)
- Cited in: Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses. (PMID 9182788)