L535F (p.Leu535Phe) variant of PCSK1 (Neuroendocrine convertase 1)
L535F (p.Leu535Phe) in PCSK1 (Neuroendocrine convertase 1) is a missense change. Clinical records from ClinVar 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 0.65 / 1. The record also includes population frequency data and structural context.
L535F (p.Leu535Phe) variant details
- p.Leu535Phe
- 1000Genomes rs562451052
- ExAC rs562451052
- gnomAD rs562451052
- Likely pathogenic
- Obesity due to prohormone convertase I deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.75
- MetaLR 0.73
- MetaSVM 0.55
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Obesity due to prohormone convertase I deficiency)
- UniProt: Likely pathogenic
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available