S158F (p.Ser158Phe) variant of LDLR (Low-density lipoprotein receptor)
S158F (p.Ser158Phe) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
S158F (p.Ser158Phe) variant details
- p.Ser158Phe
- cosmic curated COSV10725
- Ensembl rs763998635
- Likely pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- AlphaMissense 0.60
- MetaLR 0.86
- MetaSVM 0.37
- CADD 22.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Hypercholesterolemia, familial, 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available