P563R (p.Pro563Arg) variant of PCSK1 (Neuroendocrine convertase 1)
P563R (p.Pro563Arg) 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 0.78 / 1. The record also includes structural context.
P563R (p.Pro563Arg) variant details
- p.Pro563Arg
- rs1580744791
- ClinGen CA360478428
- ClinVar RCV000995597
- Ensembl rs1580744791
- Likely pathogenic
- Obesity due to prohormone convertase I deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- MutPred 0.78
- ClinVar: Likely pathogenic (Obesity due to prohormone convertase I deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available