L57F (p.Leu57Phe) variant of PCSK1 (Neuroendocrine convertase 1)
L57F (p.Leu57Phe) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L57F (p.Leu57Phe) variant details
- p.Leu57Phe
- TOPMed rs1761550899
- gnomAD rs1761550899
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.05
- MetaLR 0.06
- MetaSVM -1.10
- CADD 22.60
- PolyPhen-2 0.03
- SIFT 0.65
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available