G41R (p.Gly41Arg) variant of PCSK1 (Neuroendocrine convertase 1)
G41R (p.Gly41Arg) in PCSK1 (Neuroendocrine convertase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Obesity due to prohormone convertase I deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G41R (p.Gly41Arg) variant details
- p.Gly41Arg
- rs765217767
- ClinGen CA3350597
- ClinVar RCV001158139
- ClinVar RCV003293909
- Uncertain significance
- Inborn genetic diseases; Obesity due to prohormone convertase I deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.23
- MetaLR 0.22
- MetaSVM -0.71
- CADD 26.50
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Obesity due to prohormone convertase I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0026)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)