L105P (p.Leu105Pro) variant of GBA1 (P04062)
L105P (p.Leu105Pro) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Gaucher disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
L105P (p.Leu105Pro) variant details
- p.Leu105Pro
- rs1423108738
- ClinGen CA342726566
- ClinVar RCV002254497
- gnomAD rs1423108738
- Conflicting interpretations
- not provided; Gaucher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.77
- CADD 23.60
- PolyPhen-2 0.48
- SIFT 0.17
- ClinVar: Conflicting classifications of pathogenicity (not provided; Gaucher disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available