L363P (p.Leu363Pro) variant of GBA1 (P04062)
L363P (p.Leu363Pro) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
L363P (p.Leu363Pro) variant details
- p.Leu363Pro
- rs1178732315
- ClinGen CA342716963
- ClinVar RCV001723303
- ClinVar RCV004587196
- Likely pathogenic
- Gaucher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.93
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Gaucher disease)
- EBI: Likely pathogenic (in GD1)
- UniProt: Likely pathogenic (in GD1)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease. (PMID 26528954)
- Cited in: Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal… (PMID 9683600)