C27Y (p.Cys27Tyr) variant of LDLR (Low-density lipoprotein receptor)
C27Y (p.Cys27Tyr) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
C27Y (p.Cys27Tyr) variant details
- p.Cys27Tyr
- rs1600700344
- ClinGen CA404074606
- ClinVar RCV002580826
- Ensembl rs1600700344
- Conflicting interpretations
- Familial hypercholesterolemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.962
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Conflicting classifications of pathogenicity (Familial hypercholesterolemia; not provided)
- EBI: Variant of uncertain significance (in FHCL1)
- UniProt: Uncertain significance (in FHCL1)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)