G41A (p.Gly41Ala) variant of PCSK1 (Neuroendocrine convertase 1)
G41A (p.Gly41Ala) 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 PCSK1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G41A (p.Gly41Ala) variant details
- p.Gly41Ala
- TOPMed rs1302916630
- gnomAD rs1302916630
- Uncertain significance
- PCSK1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -1.09
- CADD 21.50
- PolyPhen-2 0.14
- SIFT 0.12
- ClinVar: Uncertain significance (PCSK1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available