G42D (p.Gly42Asp) variant of PCSK1 (Neuroendocrine convertase 1)
G42D (p.Gly42Asp) 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 PCSK1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G42D (p.Gly42Asp) variant details
- p.Gly42Asp
- rs1359353262
- ClinGen CA360486083
- ClinVar RCV003939801
- TOPMed rs1359353262
- Likely pathogenic
- PCSK1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.22
- MetaLR 0.14
- MetaSVM -0.91
- CADD 24.70
- PolyPhen-2 0.57
- SIFT 0.04
- ClinVar: Likely pathogenic (PCSK1-related disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available