F32S (p.Phe32Ser) variant of LDLR (Low-density lipoprotein receptor)
F32S (p.Phe32Ser) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial hypercholesterolemia; Hypercholesterolemia, familial, 1; Cardiovascular. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
F32S (p.Phe32Ser) variant details
- p.Phe32Ser
- rs879254403
- ClinGen CA305295205
- ClinVar RCV001193786
- ClinVar RCV002379750
- Conflicting interpretations
- Familial hypercholesterolemia; Hypercholesterolemia, familial, 1; Cardiovascular
- Missense
- Variant Prioritization Score for Impact Estimate 0.948
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Conflicting classifications of pathogenicity (Familial hypercholesterolemia; Hypercholesterolemia, familial, 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)