L449P (p.Leu449Pro) variant of PCSK1 (Neuroendocrine convertase 1)
L449P (p.Leu449Pro) in PCSK1 (Neuroendocrine convertase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Obesity due to prohormone convertase I deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes structural context.
L449P (p.Leu449Pro) variant details
- p.Leu449Pro
- rs1580746829
- ClinGen CA360479554
- ClinVar RCV000995598
- Ensembl rs1580746829
- Likely pathogenic
- Obesity due to prohormone convertase I deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- MutPred 0.76
- ClinVar: Likely pathogenic (Obesity due to prohormone convertase I deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available