G59S (p.Gly59Ser) variant of PCSK1 (Neuroendocrine convertase 1)
G59S (p.Gly59Ser) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G59S (p.Gly59Ser) variant details
- p.Gly59Ser
- ExAC rs775280277
- TOPMed rs775280277
- gnomAD rs775280277
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.29
- MetaLR 0.23
- MetaSVM -0.49
- CADD 24.50
- PolyPhen-2 0.29
- SIFT 0.18
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available