L144R (p.Leu144Arg) variant of GBA1 (P04062)
L144R (p.Leu144Arg) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
L144R (p.Leu144Arg) variant details
- p.Leu144Arg
- rs794727708
- ClinGen CA275304
- ClinVar RCV000178813
- ClinVar RCV001249026
- Conflicting interpretations
- not provided; Gaucher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.90
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Gaucher disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)