S79Y (p.Ser79Tyr) variant of PCSK1 (Neuroendocrine convertase 1)
S79Y (p.Ser79Tyr) in PCSK1 (Neuroendocrine convertase 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and structural context.
S79Y (p.Ser79Tyr) variant details
- p.Ser79Tyr
- TOPMed rs1339347581
- gnomAD rs1339347581
- Uncertain significance
- Missense
- MetaLR 0.25
- MetaSVM -0.48
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available