L37Q (p.Leu37Gln) variant of APOB (Apolipoprotein B-100)
L37Q (p.Leu37Gln) in APOB (Apolipoprotein B-100) 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 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
L37Q (p.Leu37Gln) variant details
- p.Leu37Gln
- rs749171742
- ClinGen CA345965825
- ClinVar RCV001184870
- ExAC rs749171742
- Uncertain significance
- Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.02
- MetaLR 0.01
- MetaSVM -0.92
- CADD 19.20
- PolyPhen-2 0.26
- SIFT 0.33
- ClinVar: Uncertain significance (Familial hypercholesterolemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)