A17T (p.Ala17Thr) variant of LDLR (Low-density lipoprotein receptor)
A17T (p.Ala17Thr) 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; Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A17T (p.Ala17Thr) variant details
- p.Ala17Thr
- rs1201172788
- ClinGen CA404071735
- ClinVar RCV004013115
- ClinVar RCV006550989
- Conflicting interpretations
- Familial hypercholesterolemia; Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- CADD 10.40
- PolyPhen-2 0.10
- SIFT 0.17
- ClinVar: Conflicting classifications of pathogenicity (Familial hypercholesterolemia; Hypercholesterolemia, familial, 1)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)