I40V (p.Ile40Val) variant of LDLR (Low-density lipoprotein receptor)
I40V (p.Ile40Val) 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; Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
I40V (p.Ile40Val) variant details
- p.Ile40Val
- rs765969972
- ClinGen CA041837
- ClinVar RCV000509299
- ClinVar RCV001180282
- Uncertain significance
- Familial hypercholesterolemia; Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- AlphaMissense 0.20
- MetaLR 0.91
- MetaSVM 0.93
- CADD 22.80
- PolyPhen-2 0.74
- SIFT 0.36
- ClinVar: Uncertain significance (Familial hypercholesterolemia; Hypercholesterolemia, familial, 1)
- 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)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)