T11S (p.Thr11Ser) variant of LDLR (Low-density lipoprotein receptor)
T11S (p.Thr11Ser) 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 Familial hypercholesterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
T11S (p.Thr11Ser) variant details
- p.Thr11Ser
- rs1600683674
- ClinGen CA404071528
- ClinVar RCV000797028
- Ensembl rs1600683674
- Uncertain significance
- Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- AlphaMissense 0.11
- MetaLR 0.45
- MetaSVM -0.67
- PolyPhen-2 0.06
- SIFT 0.06
- MutPred 0.44
- ClinVar: Uncertain significance (Familial hypercholesterolemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)