P430L (p.Pro430Leu) variant of GBA1 (P04062)
P430L (p.Pro430Leu) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Gaucher disease perinatal lethal; not provided; Gaucher disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
P430L (p.Pro430Leu) variant details
- p.Pro430Leu
- rs76910485
- ClinGen CA30894500
- ClinVar RCV001198752
- ClinVar RCV001863130
- Pathogenic
- Gaucher disease perinatal lethal; not provided; Gaucher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.97
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Gaucher disease perinatal lethal; not provided; Gaucher disease)
- EBI: Pathogenic (in GD1)
- UniProt: Pathogenic (in GD1)
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S… (PMID 9554746)
- Cited in: A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online. (PMID 10206680)