S52L (p.Ser52Leu) variant of GBA1 (P04062)
S52L (p.Ser52Leu) 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; Gaucher disease type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
S52L (p.Ser52Leu) variant details
- p.Ser52Leu
- rs1275724188
- NCI-TCGA Cosmic COSV5916
- cosmic curated COSV59169
- gnomAD rs1275724188
- Conflicting interpretations
- Gaucher disease; Gaucher disease type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.63
- CADD 23.30
- PolyPhen-2 0.44
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (Gaucher disease; Gaucher disease type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available