F295L (p.Phe295Leu) variant of ANGPTL3 (Angiopoietin-related protein 3)
F295L (p.Phe295Leu) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial hypobetalipoproteinemia 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
F295L (p.Phe295Leu) variant details
- p.Phe295Leu
- rs398122989
- ClinGen CA145487
- ClinVar RCV000077770
- ExAC rs398122989
- Pathogenic
- Familial hypobetalipoproteinemia 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.86
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic (Familial hypobetalipoproteinemia 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia. (PMID 22247256)
- Cited in: Familial Combined Hypolipidemia. (PMID 37471510)