L15S (p.Leu15Ser) variant of GBA1 (P04062)
L15S (p.Leu15Ser) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Gaucher disease type I; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L15S (p.Leu15Ser) variant details
- p.Leu15Ser
- rs1141802
- ClinGen CA30896586
- ClinVar RCV004091313
- ClinVar RCV004560069
- Conflicting interpretations
- Gaucher disease type I; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.31
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.57
- ClinVar: Conflicting classifications of pathogenicity (Gaucher disease type I; not specified)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)