V437F (p.Val437Phe) variant of GBA1 (P04062)
V437F (p.Val437Phe) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Gaucher disease perinatal lethal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
V437F (p.Val437Phe) variant details
- p.Val437Phe
- rs121908310
- ClinGen CA253069
- cosmic curated COSV59170
- ClinVar RCV000004544
- Pathogenic
- Gaucher disease perinatal lethal
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- AlphaMissense 0.88
- MetaLR 0.95
- MetaSVM 1.04
- PolyPhen-2 0.00
- SIFT 0.06
- EVE 0.35
- ClinVar: Pathogenic (Gaucher disease perinatal lethal)
- EBI: Pathogenic (in GDPL)
- UniProt: Pathogenic (in GDPL)
- Structural context available
- Cited in: Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? (PMID 10352942)
- Cited in: Gaucher Disease. (PMID 20301446)