L424P (p.Leu424Pro) variant of GBA1 (P04062)
L424P (p.Leu424Pro) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Gaucher disease; Gaucher disease type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
L424P (p.Leu424Pro) variant details
- p.Leu424Pro
- rs772548282
- ClinGen CA1141566
- ClinVar RCV000761282
- ExAC rs772548282
- Likely pathogenic
- Gaucher disease; Gaucher disease type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.97
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Gaucher disease; Gaucher disease type I)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.8e-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)