C134S (p.Cys134Ser) variant of LDLR (Low-density lipoprotein receptor)
C134S (p.Cys134Ser) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Familial hypercholesterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
C134S (p.Cys134Ser) variant details
- p.Cys134Ser
- rs875989900
- ClinGen CA404076356
- ClinVar RCV002357847
- Uncertain significance
- Cardiovascular phenotype; Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Uncertain significance (Familial hypercholesterolemia)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Structural context available