S177L (p.Ser177Leu) variant of LDLR (Low-density lipoprotein receptor)
S177L (p.Ser177Leu) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
S177L (p.Ser177Leu) variant details
- p.Ser177Leu
- rs121908026
- ClinGen CA023715
- ClinVar RCV000003871
- ClinVar RCV000161958
- Pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- AlphaMissense 0.78
- MetaLR 0.97
- MetaSVM 1.09
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Hypercholesterolemia, familial, 1)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Cited in: Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial… (PMID 10206683)
- Cited in: Presence and type of low density lipoprotein receptor (LDLR) mutation influences the lipid profile and response to… (PMID 24529145)