S41F (p.Ser41Phe) variant of LDLR (Low-density lipoprotein receptor)
S41F (p.Ser41Phe) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
S41F (p.Ser41Phe) variant details
- p.Ser41Phe
- rs567126042
- ClinGen CA305295229
- cosmic curated COSV52943
- ClinVar RCV001179044
- Uncertain significance
- Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- CADD 25.10
- PolyPhen-2 0.87
- SIFT 0.00
- ClinVar: Uncertain significance (Familial hypercholesterolemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)