S41T (p.Ser41Thr) variant of LDLR (Low-density lipoprotein receptor)
S41T (p.Ser41Thr) 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 Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
S41T (p.Ser41Thr) variant details
- p.Ser41Thr
- rs2077193859
- ClinGen CA404074765
- ClinVar RCV001122966
- Ensembl rs2077193859
- Uncertain significance
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- CADD 16.60
- PolyPhen-2 0.04
- SIFT 0.39
- ClinVar: Uncertain significance (Hypercholesterolemia, familial, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)
- Cited in: Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance… (PMID 21600525)