L41Q (p.Leu41Gln) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
L41Q (p.Leu41Gln) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not specified; Hypercholesterolemia, autosomal dominan. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L41Q (p.Leu41Gln) variant details
- p.Leu41Gln
- rs550263135
- ClinGen CA036030
- ClinVar RCV003305370
- ClinVar RCV003500823
- Uncertain significance
- Cardiovascular phenotype; not specified; Hypercholesterolemia, autosomal dominan
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.27
- MetaSVM -0.79
- CADD 26.40
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified; Hypercholesterolemia, a)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)