G158A (p.Gly158Ala) variant of PCSK1 (Neuroendocrine convertase 1)
G158A (p.Gly158Ala) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
G158A (p.Gly158Ala) variant details
- p.Gly158Ala
- TOPMed rs1490377137
- gnomAD rs1490377137
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.85
- MetaLR 0.87
- MetaSVM 0.93
- CADD 26.70
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available