G155S (p.Gly155Ser) variant of PCSK1 (Neuroendocrine convertase 1)
G155S (p.Gly155Ser) in PCSK1 (Neuroendocrine convertase 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
G155S (p.Gly155Ser) variant details
- p.Gly155Ser
- TOPMed rs1382566997
- gnomAD rs1382566997
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.93
- MetaLR 0.79
- MetaSVM 0.82
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available