S307L (p.Ser307Leu) variant of PCSK1 (Neuroendocrine convertase 1)
S307L (p.Ser307Leu) in PCSK1 (Neuroendocrine convertase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Obesity due to prohormone convertase I deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
S307L (p.Ser307Leu) variant details
- p.Ser307Leu
- rs137852824
- ClinGen CA123730
- cosmic curated COSV60738
- ClinVar RCV000015085
- Pathogenic
- Obesity due to prohormone convertase I deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.86
- MetaLR 0.78
- MetaSVM 0.73
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Obesity due to prohormone convertase I deficiency)
- EBI: Pathogenic (in PC1 deficiency)
- UniProt: Pathogenic (in PC1 deficiency)
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Cited in: Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3. (PMID 17595246)
- Cited in: Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency. (PMID 14617756)