C148Y (p.Cys148Tyr) variant of LDLR (Low-density lipoprotein receptor)
C148Y (p.Cys148Tyr) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Homozygous familial hypercholesterolemia; Familial hypercholesterolemia; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
C148Y (p.Cys148Tyr) variant details
- p.Cys148Tyr
- rs879254526
- ClinGen CA10584921
- ClinVar RCV000238228
- ClinVar RCV002327174
- Pathogenic/Likely pathogenic
- Homozygous familial hypercholesterolemia; Familial hypercholesterolemia; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- AlphaMissense 0.98
- MetaLR 1.00
- MetaSVM 0.92
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Homozygous familial hypercholesterolemia; Familial hypercholeste)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial… (PMID 11462246)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)