K46E (p.Lys46Glu) variant of GBA1 (P04062)
K46E (p.Lys46Glu) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Lewy body dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
K46E (p.Lys46Glu) variant details
- p.Lys46Glu
- rs142761046
- ClinGen CA1141831
- ClinVar RCV003155858
- ClinVar RCV005860364
- Uncertain significance
- not specified; Lewy body dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.72
- CADD 22.70
- PolyPhen-2 0.15
- SIFT 0.01
- ClinVar: Uncertain significance (not specified; Lewy body dementia)
- EBI: Variant of uncertain significance (found in a patient with Parkinson disease)
- UniProt: Uncertain significance (found in a patient with Parkinson disease)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. (PMID 19286695)