S24I (p.Ser24Ile) variant of PCSK1 (Neuroendocrine convertase 1)
S24I (p.Ser24Ile) in PCSK1 (Neuroendocrine convertase 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
S24I (p.Ser24Ile) variant details
- p.Ser24Ile
- TOPMed rs1183154024
- gnomAD rs1183154024
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.13
- MetaLR 0.17
- MetaSVM -0.79
- CADD 12.60
- PolyPhen-2 0.02
- SIFT 0.45
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available