R438Q (p.Arg438Gln) variant of PCSK1 (Neuroendocrine convertase 1)
R438Q (p.Arg438Gln) 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 0.70 / 1. The record also includes population frequency data and structural context.
R438Q (p.Arg438Gln) variant details
- p.Arg438Gln
- rs771457696
- ClinGen CA3350241
- cosmic curated COSV60735
- ClinVar RCV001823847
- Likely pathogenic
- Obesity due to prohormone convertase I deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.69
- MetaLR 0.63
- MetaSVM 0.11
- CADD 25.20
- PolyPhen-2 0.94
- SIFT 0.04
- ClinVar: Likely pathogenic (Obesity due to prohormone convertase I deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available