A18S (p.Ala18Ser) variant of PCSK1 (Neuroendocrine convertase 1)
A18S (p.Ala18Ser) 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 0.18 / 1. The record also includes population frequency data and structural context.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- TOPMed rs1029535554
- gnomAD rs1029535554
- Uncertain significance
- PCSK1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.09
- MetaLR 0.09
- MetaSVM -1.02
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Uncertain significance (PCSK1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available