S79C (p.Ser79Cys) variant of PCSK1 (Neuroendocrine convertase 1)
S79C (p.Ser79Cys) 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 0.48 / 1. The record also includes population frequency data and structural context.
S79C (p.Ser79Cys) variant details
- p.Ser79Cys
- rs1339347581
- ClinGen CA360485242
- ClinVar RCV003414556
- TOPMed rs1339347581
- Uncertain significance
- PCSK1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.32
- MetaLR 0.27
- MetaSVM -0.39
- CADD 25.60
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Uncertain significance (PCSK1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available