P454L (p.Pro454Leu) variant of GBA1 (P04062)
P454L (p.Pro454Leu) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Lewy body dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
P454L (p.Pro454Leu) variant details
- p.Pro454Leu
- rs121908295
- ClinGen CA342712599
- ClinVar RCV003224821
- Pathogenic
- Lewy body dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.94
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.99
- CADD 28.90
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Lewy body dementia)
- EBI: Pathogenic (in GD2)
- UniProt: Pathogenic (in GD2)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available